Genographic Project Publications 2015

Nat Geo logoAt the 2015 Family Tree DNA Conference, Dr. Miguel Vilar was kind enough to offer to send me the list of papers published to date as a result of the Genographic Project.  He mentioned that there are 5 additional papers in the final stages of publication, so the total for the end of 2015 will be 60 papers.  Quite an accomplishment!

Below are the titles and references plus short descriptions of the major findings.  Thank you Dr. Vilar and National Geographic.


  1. Behar, D. M., Rosset, S., Blue-Smith, J., Balanovsky, O., Tzur, S., Comas, D., Mitchell, R. J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S., and The Genographic Consortium. 2007. The Genographic Project public participation mitochondrial DNA database. PLoS Genetics 3: 1083-1095.
  • This paper establishes Genographic’s database as the new standard mtDNA data repository and reports a new “Nearest Neighbor” statistical method for improved haplogroup classification, presenting learned experience from the public part of the project. It also makes publicly available a portion of the Genographic database, a process that will continue throughout project duration. This technical paper has been crucial in establishing the project’s importance in the scientific community.


  1. Gan, R. J., Pan, S. L., Mustavich, L. F., Qin, Z. D., Cai, X. Y., Qian, J., Liu, C. W., Peng, J. H., Li, S. L., Xu, J. S., Jin, L., Li, H., and The Genographic Consortium. 2008. Pinghua population as an exception of Han Chinese’s coherent genetic structure. Journal of Human Genetics 53: 303-313.
  • The Han Chinese are the largest ethnic group in the world with more than 1.3 billion people, comprising 19 percent of the world population. Chinese is the language spoken by this ethnic group, which can be classified into 10 major dialects. This paper focuses on studying the genetic structure of the people speaking one of these dialects, the Pinghua people. When the genetic structure of Pinghua people was compared to the rest of the Han Chinese populations, it was observed that Pinghua populations did not directly descend from Han Chinese, who originated in the north, but from other southern populations. Thus, from a genetic point of view, the Pinghua populations represent an exception to the rest of Han Chinese populations. These results can be explained if ancestral populations of Pinghua people were not replaced by Han Chinese population, but if they assimilated the Han Chinese language and culture.
  1. Zalloua, P. A., Xue, Y., Khalife, J., Makhoul, N., Debiane, L., Platt, D. E., Royyuru, A. K., Herrera, R. J., Soria Hernanz, D. F., Blue-Smith, J., Wells, R. S., Comas, D., Bertranpetit, J., Tyler-Smith, C., and The Genographic Consortium. 2008. Y-chromosomal diversity in Lebanon is structured by recent historical events. American Journal of Human Genetics 82: 873-882.
  • Lebanon is a small country in the Middle East inhabited by almost 4 million people from a wide variety of ethnicities and religions. The results of this paper indicate that male genetic variation within Lebanon is strongly structured by religion. This unusual situation can be accounted for by two major known historical migrations into Lebanon. The Islamic expansion from the Arabian Peninsula beginning in the 7th century introduced genetic lineages typical of the Arabian peninsula into Lebanese Muslims, while the crusader activity in the 11th-13th centuries introduced Western European lineages into Lebanese Christians.
  1. Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R., Makkan, H., Tzur, S., Comas, D., Bertranpetit, J., Quintana-Murci, L., Tyler-Smith, C., Wells, R. S., Rosset, S., and The Genographic Consortium. 2008. The dawn of human matrilineal diversity. American Journal of Human Genetics 82: 1130-1140.
  • African genetic diversity is unlike that found anywhere else in the world. This paper seeks to make sense of some of the most fundamental questions surrounding our earliest ancestors on the continent. Where specifically did we originate in Africa? Was it from a single group or the result of many? When do we first see African lineages appear outside of Africa? About 350 novel mitochondrial whole-genome sequences were included — doubling the existing published dataset — and the paper presented a new tree of African mtDNA diversity, reporting many novel African lineages for the first time. This paper provides an age estimate for the earliest split of humans in East Africa as one group headed south and was subsequently isolated. It explains that all humans came from a single population that split into two groups, shows that more than 99 percent of all living humans descend from one of these two groups, and suggests historical reasons for why genetic mixture did not exist between these ancient populations. It also presents evidence for the emergence of these early lineages into the Middle East and the origins of the two major non-African groups, M and N, respectively. The paper received considerable media attention — approximately 275 articles — including substantial pieces in the Economist and on CNN/BBC online.
  1. Behar, D. M., Blue-Smith, J., Soria-Hernanz, D. F., Tzur, S., Hadid, Y., Bormans, C., Moen, A., Tyler-Smith, C., Quintana-Murci, L., Wells, R. S., and The Genographic Consortium. 2008. A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Human Mutation 29: 1387-1391.
  • This paper describes a novel deletion of 154 base pairs within the control region of the human mitochondrial genome that was originally identified in an anonymous Japanese public participant. It was demonstrated that this deletion is a heritable character since it was transmitted from the participant’s mother to her two sons. This is the first time that such a large deletion located in this specific portion of the control region has been observed to not have negative effects in the health of the carriers. The identification of this large heritable deletion in healthy individuals challenges the current view of the control region as playing a crucial role in the replication and regulation of the mitochondrial genome. It is anticipated that this finding will lead to further research on the reported samples in an attempt to increase our understanding of the role of specific sequences within the control region for mtDNA replication. Finally, this paper illustrates the importance of creating a large database of human genetic variation in order to discover rare genetic variants that otherwise would remain unidentified. The discovery of such rare mtDNA haplotypes will be important to identifying the relative power of adaptive and non-adaptive forces acting on the evolution of the mtDNA genome.
  1. Parida, L., Melé, M., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2008. Estimating the ancestral recombinations graph (ARG) as compatible networks of SNP patterns. Journal of Computational Biology 15: 1133-1153.
  • Traditionally the nonrecombinant, maternally inherited (mtDNA) and paternally inherited (Y chromosome) genomes have been widely used for phylogenetic and evolutionary studies in humans. However, these two genomes only represent 1 percent of the total genetic variation within an individual, and sampling just these two loci is inadequate to reconstruct with any precision the time-depth and pattern of human evolution. The scope of this paper is to elaborate on a mathematical algorithm that includes recombination patterns among human populations. This approach will allow us to use the rest of the recombining genome to reconstruct more accurately the patterns of human migration.
  1. Rossett, S., Wells, R. S., Soria-Hernanz, D. F., Tyler-Smith, C., Royyuru, A. K., Behar, D. M., and The Genographic Consortium. 2008. Maximum-likelihood estimation of site-specific mutation rates in human mitochondrial DNA from partial phylogenetic classification. Genetics 180: 1511-1524.
  • This paper presents novel algorithms to estimate how frequently each base pair of the hypervariable region of the mtDNA changes. Implementations of these algorithms will help to better investigate functionality in the mtDNA and improve current classification of mtDNA haplogroups.
  1. Zalloua, P. A., Platt, D. E., El Sibai, M., Khalife, J., Makhoul, N., Haber, M., Xue, Y., Izaabel, H., Bosch, E., Adams, S. M., Arroyo, E., López-Parra, A. M., Aler, M., Picornell, A., Ramon, M., Jobling, M. A., Comas, D., Bertranpetit, J., Wells, R. S., Tyler-Smith, C., and The Genographic Consortium. 2008. Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. American Journal of Human Genetics 83: 633-642.
  • The Phoenicians gave the world the alphabet and a love of the color purple, and this study shows that they left some of their genes as well. The paper shows that as many as one in 17 men in the Mediterranean basin may have a Phoenician as a direct male-line ancestor, using a novel analytical method for detecting the subtle genetic impact of historical population migrations. Its first application has been to reveal the genetic legacy of the Phoenicians, an intriguing and mysterious first-millennium B.C. trading empire. From their base in present-day Lebanon, the Phoenicians expanded by sea throughout the Mediterranean, founding colonies as far as Spain and North Africa, where their most powerful city, Carthage, was located. The world’s first “global capitalists,” the Phoenicians controlled trade throughout the Mediterranean basin for nearly a thousand years until their conquest by Rome in the 2nd century B.C. Over the ensuing centuries, much of what was known about this enigmatic people was lost or destroyed. This paper received substantial international and domestic press coverage, including an article in The New York Times.


  1. Parida, L., Javed, A., Melé, M., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2009. Minimizing recombinations in consensus networks for phylogeographic studies. BMC Bioinformatics 10: Article S72.
  • This paper implements a new mathematical model to identify recombination spots in human populations to infer ancient recombination and population-specific recombination on a portion of the X chromosome. The results support the widely accepted out-of-Africa model of human dispersal, and the recombination patterns were capable of detecting both continental and population differences. This is the first characterization of human populations based on recombination patterns.
  1. El-Sibai, M., Platt, D. E., Haber, M., Xue, Y., Youhanna, S. C., Wells, R. S., Izaabel, H., Sanyoura, M. F., Harmanani, H., Ashrafian Bonab, M., Behbehani, J., Hashwa, F., Tyler-Smith, C., Zalloua, P. A., and The Genographic Consortium. 2009. Geographical structure of the Y-chromosomal genetic landscape of the Levant: A coastal-inland contrast. Annals of Human Genetics 73: 568-581.
  • This paper examines the male-specific phylogeography of the Levant and its surroundings. The Levant lies in the eastern Mediterranean region, south of the mountains of south Turkey and north of the Sinai Peninsula. It was found that the Levantine populations cluster together when considered against a broad Middle-East and North African background. However, within Lebanon there is a coastal-inland (east-west) pattern in the diversity and frequency of several Y haplogroups. This pattern is likely to have arisen from differential migrations, with different lineages introduced from the east and west.


  1. Haak, W., Balanovsky, O., Sanchez, J. J., Koshel, S., Zaporozhchenko, V., Adler, C. J., Der Sarkissian, C. S. I., Brandt, G., Schwarz, C., Nicklisch, N., Dresely, V., Fritsch, B., Balanovska, E., Villems, R., Meller, H., Alt, K. W., Cooper, A., and The Genographic Consortium. 2010. Ancient DNA from European Early Neolithic farmers reveals their Near Eastern affinities. PLoS Biology 8: Article e1000536.
  • The nature and speed of the Neolithic transition in Europe is a matter of continuing debate. In this paper, new genetic analyses based on ancient human remains from the earliest farming culture in Central Europe known as the Linear Pottery Culture (5,500-4,900 years ago) indicate a shared genetic maternal affinity with modern-day Near East and Anatolia, and therefore they likely came from the Middle East. However, these lineages from the earliest agriculturalists were also distinct from the current genetic lineages observed in European populations, indicating that major demographic events continued in Europe during the Neolithic. These results point out the importance of using ancient DNA to better understand past demographic events.
  1. Melé, M., Javed, A., Pybus, M., Calafell, F., Parida, L., Bertranpetit, J., and The Genographic Consortium. 2010. A new method to reconstruct recombination events at a genomic scale. PLoS Computational Biology 6: Article e1001010.
  • A chromosomal recombination event creates a junction between two parental sequences. These recombinant sequences are transmitted to subsequent generations, and recombination is one of the main forces molding human genetic diversity. However, the information about genetic relationships among populations given by these events is usually overlooked due to the analytical difficulty of identifying the history of recombination events. This paper validates and calibrates the IRiS software for inferring the history of recombination events, allowing the creation of novel recombinational “markers” known as recotypes, which can be analyzed in a similar way to standard mutational markers.
  1. Qin, Z., Yang, Y., Kang, L., Yan, S., Cho, K., Cai, X., Lu, Y., Zheng, H., Zhu, D., Fei, D., Li, S., Jin, L., Li, H., and The Genographic Consortium. 2010. A mitochondrial revelation of early human migrations to the Tibetan Plateau before and after the Last Glacial Maximum. American Journal of Physical Anthropology 143: 555-569.
  • The Tibetan Plateau was long considered one of the last areas to be populated by modern humans. Recent archaeological, linguistic and genetic findings have challenged this view. In this paper, maternal lineages of 562 individuals from nine different regions within Tibet have been analyzed to further investigate the timing and routes of entry of humans into the plateau. The maternal diversity in Tibet primarily reflects northern East Asian ancestry, likely reflecting a population expansion from this region into the plateau prior to the Last Glacial Maximum (LGM) ~18,000 years ago. In addition, the highest diversity was concentrated in the southern part of the plateau, indicating that this region probably acted as a population refugium during the LGM and the source of a post-LGM expansion within the plateau.
  1. Zhadanov, S. I., Dulik, M. C., Markley, M., Jennings, G. W., Gaieski, J. B., Elias, G., Schurr, T. G., and The Genographic Project Consortium. 2010. Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts. American Journal of Physical Anthropology 142: 579-589.
  • The biological ancestry of the Seaconke Wampanoag tribe, a group of Native American clans in southern Massachusetts, reflects the genetic consequences of epidemics and conflicts during the 16th century that decimated their population, reducing them from an estimated 12,000 individuals at the beginning of the century to less than 400 at the end. The majority of the paternal and maternal lineages in present-day Seaconke Wampanoag, however, belong to West Eurasian and African lineages, revealing the extensive interactions with people from different ancestries that settled the region during the past four centuries.


  1. Adler, C. J., Haak, W., Donlon, D., Cooper, A., and The Genographic Consortium. 2011. Survival and recovery of DNA from ancient teeth and bones. Journal of Archaeological Science 38: 956-964.
  • The recovery of genetic material from ancient human remains depends on the sampling methods used as well as the environment where the human material was preserved. The results presented in this study quantify the damage caused to ancient DNA by various methods of sampling teeth and bones. The negative impact is minimized if very low drill speeds are used during DNA extraction, increasing both the quantity and quality of material recovered. In addition, the mtDNA content of tooth cementum was five times higher than other commonly used methods, making this component the best place to sample ancient DNA. These conclusions will help to guide future sampling of DNA from ancient material.
  1. Haber, M., Platt, D. E., Badro, D. A., Xue, Y., El-Sibai, M., Ashrafian Bonab, M., Youhanna, S. C., Saade, S., Soria-Hernanz, D. F., Royyuru, A., Wells, R. S., Tyler-Smith, C., Zalloua, P. A., and The Genographic Consortium. 2011. Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon. European Journal of Human Genetics 19: 334-340.
  • Cultural patterns frequently leave genetic traces. The aim of this study was to explore the genetic signature of the establishment of religious communities in a region where some of the most influential world religions originated, using the Y chromosome as an informative male-lineage marker. The analysis shows that the religions in Lebanon were adopted within already distinguishable communities. Differentiation appears to have begun before the establishment of Islam and Christianity, dating to the Phoenician period, and isolation continued during the period of Persian domination. Religious affiliation served to reinforce the genetic signatures of pre-existing population differentiation.
  1. Martínez-Cruz, B., Ziegle, J., Sanz, P., Sotelo, G., Anglada, R., Plaza, S., Comas, D., and The Genographic Consortium. 2011. Multiplex single-nucleotide polymorphism typing of the human Y chromosome using TaqMan probes. Investigative Genetics 2: Article 13.
  • This paper presents a robust and accurate Y-chromosome multiplex assay that can genotype in a single reaction 121 markers distinguishing most of the haplogroups and subhaplogroups observed in European populations. The assay was >99 percent accurate in assigning haplogroups, minimizing sample handling errors that can occur with several independent TaqMan reactions.
  1. Jota, M. S., Lacerda, D. R., Sandoval, J. R., Vieira, P. P. R., Santos-Lopes, S. S., Bisso-Machado, R., Paixão-Cortes, V. R., Revollo, S., Paz-y-Miño, C., Fujita, R., Salzano, F. M., Bonatto, S. L., Bortolini, M. C., Tyler-Smith, C., Santos, F. R., and The Genographic Consortium. 2011. A new subhaplogroup of Native American Y-chromosomes from the Andes. American Journal of Physical Anthropology (published online Sept. 13, 2011.)
  • Almost all Y chromosomes in South America fall into a single haplogroup, Q1a3a. This paper presents a new single nucleotide polymorphism (SNP) in the Q1a3a lineage that is specific to Andean populations, allowing more accurate inferences of the population history of this region. This novel marker is estimated to be ~5,000 years old, consistent with an ancient settlement of the Andean highlands.
  1. Yan, S., Wang, C. C., Li, H., Li, S. L., Jin, L., and The Genographic Consortium. 2011. An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. European Journal of Human Genetics 19: 1013-1015.
  • Y-chromosome Haplogroup O is the dominant Y-chromosome lineage in East Asians, carried by more than a quarter of all males on the world. This study revises the haplogroup O phylogeny, using several recently discovered markers. The newly generated tree for this haplogroup will lead to a more detailed understanding of the population history of East Asia.
  1. Yang, K., Zheng, H., Qin, Z., Lu, Y., Farina, S. E., Li, S., Jin, L., Li, D., Li, H., and The Genographic Consortium. 2011. Positive selection on mitochondrial M7 lineages among the Gelong people in Hainan. Journal of Human Genetics 56: 253-256.
  • The Gelong people migrated in the last 1,000 years from Guizhou province in southern China to Hainan island (the hottest province in China). The genetic structure of the Gelong people showed a clearly sex-biased pattern of admixture with the indigenous Hainan population (Hlai people), with 30.7 percent of the maternal lineages being of Hainan origin in contrast to 4.9 percent of the paternal lineages. This striking pattern is partially explained through the action of selection on the M7 Hainan autochthonous maternal lineages, leading to their expansion in the admixed population. This may be due to some selective advantage provided by the M7 lineages in the tropical Hainan climate. Future whole mtDNA genome sequencing of these M7 lineages may reveal their functional relevance and the mechanism involved in human adaptation to tropical climates.
  1. Balanovsky, O., Dibirova, K., Dybo, A., Mudrak, O., Frolova, S., Pocheshkhova, E., Haber, M., Platt, D., Schurr, T., Haak, W., Kuznetsova, M., Radzhabov, M., Balaganskaya, O., Druzhinina, E., Zakharova, T., Soria Hernanz, D. F., Zalloua, P., Koshel, S., Ruhlen, M., Renfrew, C., Wells, R. S., Tyler-Smith, C., Balanovska, E., and The Genographic Consortium. 2011. Parallel evolution of genes and languages in the Caucasus region. Molecular Biology and Evolution 28: 2905-2920.
  • The Caucasus region harbors some of the highest linguistic diversity on Earth, leading to the moniker “The Mountain of Languages.” To investigate the forces that may have molded Caucasian linguistic patterns, the Genographic team studied Y-chromosome variation in 1,525 men from 14 populations in the Caucasus. The Y-chromosome lineages found in the Caucasus originated in the Near East and were introduced to the Caucasus in the late Upper Paleolithic or early Neolithic periods. This initial settlement was followed by a high degree of population isolation due to the mountainous terrain. Comparisons between the genetic and linguistic trees showed a striking correspondence between the topology and divergence times for the two, revealing a parallel evolution of genes and languages in the Caucasus in the past few millennia. This high degree of correspondence between genetic and linguistic patterns has not been seen in other regions of the world.
  1. Gaieski, J. B., Owings, A. C., Vilar, M. G., Dulik, M. C., Gaieski, D. F., Gittelman, R. M., Lindo, J., Gau, L., Schurr, T. G., and The Genographic Consortium. 2011. Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. American Journal of Physical Anthropology 146: 392-405.
  • Bermuda is an isolated group of islands in the middle of the Atlantic settled during the 17th century by Western Europeans along with African and Native American slaves. The pattern of Y-chromosome and mitochondrial DNA diversity was studied in 111 members of a “native” community on St. David’s Island. Two-thirds of the paternal lineages are of European origin, while two-thirds of the mitochondrial DNA lineages are African. In contrast to other English-speaking communities in the Americas, however, the majority of St. David’s maternal lineages appear to derive from central and southern Africa, regions that historically were controlled by Portuguese slave traders. It is likely that the English settlers of Bermuda obtained slaves from these Portuguese sources. Despite genealogical records and oral traditions indicating significant arrivals of Native Americans as labor force, the proportion of Native American lineages was less than 2 percent on both the paternal and maternal sides. This study gives new insights into the complex history of colonization and migration in the Caribbean.
  1. Cai, X., Qin, Z., Wen, B., Xu, S., Wang, Y., Lu, Y., Wei, L., Wang, C., Li, S., Huang, X., Jin, L., Li, H., and The Genographic Consortium. 2011. Human Migration through bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum revealed by Y chromosomes. PLoS ONE 6: e24282. doi:10.1371/journal.pone.0024282
  • The number and timing of the initial migrations to East Asia remain unresolved. This paper studied the Y-chromosome diversity in Mon-Khmer (MK)- and Hmong-Mien (HM)-speaking populations who are believed to be the source populations of other East Asians. The pattern of diversity for the O3a3b-M7 and O3a3c1-M117 lineages among MK, HM and other East Asian populations suggests an early unidirectional diffusion from Southeast Asia northward into East Asia around the time of the Last Glacial Maximum (~18,000 years ago). The ancestral population sizes of these first colonizers are believed to have gone through drastic reductions due to the barriers imposed by the geographic conditions (mountains and jungle) and the colder climate at the time of the migration. This “serial bottleneck” effect has left a distinctive genetic pattern in the present-day populations of East Asia, revealing their past demographic history.
  1. Melé, M., Javed, A., Pybus, M., Zalloua, P., Haber, M., Comas, D., Netea, M. G., Balanovsky, O., Balanovska, E., Jin, L., Yang, Y., Pitchappan, R. M., Arunkumar, G., Parida, L., Calafell, F., Bertranpetit, J., and The Genographic Consortium. 2011. Recombination gives a new insight in the effective population size and the history of the Old World human populations. Molecular Biology and Evolution (published online Sept. 1, 2011.) doi:10.1093/molbev/msr213
  • The IRiS method (described in paper 12) was used to assess the patterns of recombination on the X chromosome in 30 populations from Africa, Europe and Asia. The results suggest that the ancestors of non-African populations first left Africa in a single coastal migration across the Bad-el-Mandeb strait rather than through the Sinai Peninsula. The method allowed the team to estimate that sub-Saharan ancestral population sizes were four times greater than those in populations outside of Africa, while Indian ancestral sizes were the greatest among Eurasians. These results suggest that Indian populations played a major role in the expansions of modern humans to the rest of the world.
  1. Javed, A., Melé, M., Pybus, M., Zalloua, P., Haber, M., Comas, D., Netea, M. G., Balanovsky, O., Balanovska, E., Jin, l., Yang, Y., Arunkumar, G., Pitchappan, R., Bertranpetit, J., Calafell, F., Parida, L., and The Genographic Consortium. 2011. Recombination networks as genetic markers in a human variation study of the Old World. Human Genetics (first published online Oct. 18, 2011.)
  • An expanded analysis of the recombination dataset published in abbreviated form in paper 24, analyzing three additional populations. The conclusions outlined in paper 24 are bolstered through the more thorough presentation of the results.


  1. Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B, Salaberria J, Oyharçabal B, Bauduer F, Comas D, Quintana-Murci L; Genographic Consortium. 2012. The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times. American Journal of Human Genetics 9;90(3):486-93.
  • This study focus on the maternal genetic diversity of Basques, the last European population to have kept a pre-Indo European language, to increase knowledge of the origins of the Basque people and, more generally, on the role of the Franco-Cantabrian refuge in the post-glacial repopulation of Europe. The maternal ancestry of 908 Basque and non-Basque individuals from the Great Basque Country and adjacent regions were studied plus 420 complete mtDNA genomes within haplogroup H. The results identified six mtDNAhaplogroups autochthonous to the Franco-Cantabrian region and, more specifically, to Basque-speaking populations. Further, expansion of these haplogroups were estimated at ~4,000 ybp  with a separation from the general European gene pool to have happened  ~8,000 ybp predating the Indo-European arrival to the region. Thus, the results clearly support the hypothesis of a partial genetic continuity of contemporary Basques with the indigenous Paleolithic settlers of their homeland.
  1. Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D; the Genographic Consortium. Evidence of pre-Roman tribal genetic structure in Basques from uniparentally inherited markers. Molecular Biology and Evolution (published online March 12, 2012) doi: 10.1093/molbev/mss091.
  • Basques have received considerable attention from anthropologists, geneticists and linguists during the last century due to the singularity of their language and to other cultural and biological characteristics. Despite the multidisciplinary efforts performed to address the questions of the origin, uniqueness and heterogeneity of Basques, the genetic studies performed up to now have suffered from a weak study-design where populations are not analyzed in an adequate geographic and population context. To address the former questions and to overcome these design limitations, uniparental genomes (Y chromosome and mitochondrial DNA) of ~900 individuals from 18 populations were analyzed, including those where Basque is currently spoken and surrounding populations where Basque might have been spoken in historical times. Results situate Basques within the western European genetic landscape, although with less external influences than other Iberians and French populations. In addition, the genetic heterogeneity and structure observed in the Basque region results from pre-Roman tribal structure related to geography and is linked to the increased complexity of emerging societies during the Bronze Age. The rough overlap of tribal and current dialect limits supports the notion that the environmental diversity in the region has played a recurrent role in cultural differentiation and ethnogenesis at different time periods.
  1. Kang, L., Lu, Y., Wang, C., Hu, K., Chen, F., Liu, K., Li, S., Jin, L., Li, H., and The Genographic Consortium. 2012. Y-chromosome O3 Haplogroup diversity in Sino-Tibetan populations reveals two migration routes into the Eastern Himalayas. Annals of Human Genetics 76: 92–99.
  • This paper further explores the question of how Himalayas was populated by studying the genetic diversity of the paternal lineages of two ethnic groups from the eastern Himalayas: the Luoba and Deng. These two Sino-Tibetan speaking groups exhibited a distinct genetic composition indicating different genetic origins. The paternal diversity of the Louba people indicates past gene flow from Tibetans as well as from western and north Eurasian people. In contrast, Deng exhibited lineages similar to most of Sino-Tibetans from the east. The overall lowest diversity observed in the eastern Himalayas suggests that this area was the end point of two migratory routes of Sino-Tibetans from north China around 2,000-3,000 years ago. These date estimates also agrees with the historical records.
  1. Lu, Y., Wang, C., Qin, Z., Wen, B., Farina, S. E., Jin, L., Li, H., and The Genographic Consortium. 2012. Mitochondrial origin of the matrilocal Mosuo people in China. Mitochondrial DNA 23: 13–19
  • The Mosuo people currently live around the Lugu Lake on the border of the Yunan and Sichuan provinces of China and they are the last matrilocal population in the main land of the country. To investigate the maternal history of this ethnic group, partial genetic sequences of the mitochondria (a maternally inherited genome) were studied among Mosuo people and other larger surrounding ethnic groups. Groups with matrilocal traditions are expected to exhibited a lower mitochondrial genetic diversity because the movement of these genomes are reduced since woman remain within families after marriage. However, the results presented here did not reflect these expectations indicating that Mouso may have started practicing matrilocality long time ago, at least after the Paleolithic Age. In contrast to previous studies that showed a clear relationship between Mouso and Naxi people based on just mtDNA haplogroup frequencies, the network analyses presented here indicated clear clusters of individual sequences between Mouso and Pumi lineages. The genetic resemblance between these two group are concordant with other evidences from cultural and language studies. These results indicate that simply comparing haplogroups frequencies among ethnic groups may lead to erroneous conclusions and analyses comparing mtDNA sequences are better suitable for exploring genetic relationship among ethnic groups.
  1. Haber M, Platt DE, Ashrafian Bonab M, Youhanna SC, Soria-Hernanz DF, Martínez-Cruz B, Douaihy B, Ghassibe-Sabbagh M, Rafatpanah H, Ghanbari M, Whale J, Balanovsky O, Wells RS, Comas D, Tyler-Smith C, Zalloua PA; The Genographic Consortium. 2012. Afghanistan’s Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events. PLoS ONE 7(3): e34288. doi:10.1371/journal.pone.0034288
  • This study focus on how Afghanistan’s ethnic groups relate to each others and with other populations from neighboring countries. The results presented indicated that major genetic differences among Afghanistan’s ethnic groups are relatively recent. The different modern ethnic groups share a genetic heritage probably formed during the Neolithic in the founding of the early farming communities. However, differentiation among the ethnic groups likely started during the Bronze Age driven by the establishment of the first civilizations. Later migrations and invasions to the region, gave the Afghans a unique genetic diversity in Central Asia.
  1. Schurr, T. G., Dulik, M. C., Owings, A. C., Zhadanov, S. I., Gaieski, J. B., Vilar, M. G., Ramos, J., Moss, M. B., Natkong, F. and The Genographic Consortium. 2012. Clan, language, and migration history has shaped genetic diversity in Haida and Tlingit populations from Southeast Alaska. American Journal of Physical Anthropology. (published online May 1, 2012) doi: 10.1002/ajpa.22068.
  • This manuscript gives new insights about the genetics of the linguistically distinctive Haida and Tlingit tribes of Southeast Alaska. More espcifically, this paper study the role that Southeast Alaska may have played in the early colonization of the Americas; the genetic relationships of Haida and Tlingit to other indigenous groups in Alaska and Canada; the relationship between linguistic and genetic data for populations assigned to the Na-Dene linguistic family; the possible influence of matrilineal clan structure on patterns of genetic variation in Haida and Tlingit populations; and the impact of European entry into the region on the genetic diversity of these indigenous communities. The analysis indicates that, while sharing a ‘northern’ genetic profile, the Haida and the Tlingit are genetically distinctive from each other.  In addition, Tlingit groups themselves differ across their geographic range, in part due to interactions of Tlingit tribes with Athapaskan and Eyak groups to the north.  The data also reveal a strong influence of maternal clan identity on mtDNA variation in these groups, as well as the significant influence of non-native males on Y-chromosome diversity.  These results yield new details about the histories of the Haida and Tlingit tribes in this region.
  1. Dulik, M. C., Owings, A. C., Zhadanov, S. I., Gaieski, J. B., Vilar, M. G., Schurr, T. G., and The Genographic Consortium. 2012. Y-chromosome analysis of native North Americans reveals new paternal lineages and genetic differentiation between Eskimo-Aleut and Dene speaking populations. Accepted for publication in April in PNAS.
  • The genetic origins of the linguistically diverse Native Americans and when they reached the Americas are questions that have been explored during the last several decades. This study provides new information to these questions by increasing the number of populations sampled and the genetic resolution used in the analyses Here, it is tested whether there is any correlation between genetic diversity from paternally inherited Y-chromosomes and native populations speaking the two distinctive linguistic families: Eskimo-Aleut and Na-Dene. The results indicate that the Y chromosome genetic diversity among the first Native American was greater than previously shown in other publications. In addition, the Eskimo-Aleut and Na-Dene speaking populations showed clear genetic differences between then.  The disparities in language, culture and genetic diversity between these two populations likely reflect the outcome of two migrations that happened after the initial settlement of people into the Americas.
  1. Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantiga T, van der Meer JWM, Comas D, Netea M, The Genographic Consortium. 2012. Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS ONE 7(7): e41803
  • The most famous Transylvanian prince is Vlad III from the Basarab royal dynasty, also commonly known as Dracula. The ethnic origins of the Basarab is intensively debated among historians and it is unclear of whether they are descendants of the Cuman people (an admixed Turkic people that reached Romania from the East in the 11th century) or of Vlach people (local Romanians). This paper investigated the Y chromosome of 29 Romanian men carrying the surname Basarab and in order to identify their genetic origin the data was compared with four Romanian and other surrounding populations. Different Y-chromosome haplogroups were found within the individuals bearing the Basarab name, indicating that not all these individuals can be direct biological descendants of the Basarab dynasty. In addition, all these haplogroups are common in Romania and other Central and Eastern European populations. The Basarab group exhibited closer genetic distances with other Romanian populations. These results together with the absence of Eastern Asian paternal lineages in the Basarab men can be interpreted as a lack of evidence for a Cuman origin of this royal dynasty, although it cannot be positively ruled out. As a final conclusion, it seems that the Basarab dynasty was successful in spreading its name beyond the spread of its genes.
  1. Rebala K, Martínez-Cruz B, Tönjes A, Kovacs P, Stumvoll M, Lindner I, Büttner A, Wichmann H-E, Siváková D, Soták M, Quintana-Murci L, Szczerkowska Z, Comas D, The Genographic Consortium. 2012. Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. European Journal of Human Genetics 21(4): 415-422
  • One of the most outstanding phenomena in the Y-chromosomal diversity in Europe concerns the sharp genetic border identified between the ethnically /linguistically defined Slavic (from Poland) and German populations (from Germany). The Polish paternal lineages also reveal great degree of homogeneity in spite of a relatively large geographic area seized by the Polish state. Two main explanations have been proposed to explain the phenomena: (i) Massive human resettlements during and shortly after the World War II, and (ii) an early medieval Slavic migrations that displayed previous genetic heterogeneity. In order to answer these questions, 1,156 individuals from several Slavic and German populations were analyzed, including Polish pre-war regional populations and an autochthonous Slavic population from Germany. This study demonstrates for the first time that the Polish paternal lineages were unevenly distributed within the country before the forced resettlements of millions of people during and shortly after the WWII. Finally, the coalescence analyses support hypothesis that the early medieval Slavic expansion in Europe was a demographic event rather than solely a linguistic spread of the Slavic language.
  1. Arunkumar G, Soria-Hernanz DF, Kavitha VJ, Arun VS, Syama A, Ashokan KS, Gandhirajan KT, Vijayakumar K, Narayanan M, Jayalakshmi M, Ziegle JS, Royyuru AK, Parida L, Wells RS, Renfrew C, Schurr TG, Smith CT, Platt DE, Pitchappan R; Genographic Consortium. 2012. Population differentiation of southern Indian male lineages correlates with agricultural expansions predating the caste system. PLoS ONE. 7(11): e50269
  • Previous studies that pooled Indian populations from a wide variety of geographical locations, have obtained contradictory conclusions about the processes of the establishment of the Varna caste system. This study investigates the origin of the caste system by genotyping 1,680 Y chromosomes representing 12 tribal and 19 non-tribal (caste) populations from the Dravidian-speaking Tamil Nadu state in the southernmost part of India. 81% of Y chromosome were autochthonous Indian haplogroups (H-M69, F-M89, R1a1-M17, L1-M27, R2-M124, and C5-M356; 81% combined) with a shared genetic heritage dating back to the late Pleistocene (10-30 Kya). Results show a strong evidence for genetic structure, and coalescent analyses suggest that the stratification was established 4-6 thousand years ago, with little admixture took place during the last several millennia. The overall Y-chromosomal patterns, the time depth of population diversifications and the period of differentiation are best explained by the emergence of agricultural technology in South Asia. These results highlight the utility of detailed local genetic studies within India, without prior assumptions about the importance of Varna rank status for population grouping, to obtain new insights into the relative influences of past demographic events for the population structure of the whole of modern India.


  1. Badro DA, Douaihy B, Haber M, Youhanna SC, Salloum A, Ghassibe-Sabbagh M, Johnsrud B, Khazen G, Matisoo-Smith E, Soria-Hernanz DF, Wells RS, Tyler-Smith C, Platt DE, Zalloua PA, The Genographic Consortium. 2013. Y-chromosome and mtDNA genetics reveal significant contrasts in affinities of Modern Middle Eastern populations with European and African populations. PLoS ONE 8(1):e54616
  • The Middle East was a funnel of human expansion out of Africa, a staging area for the Neolithic Agricultural Revolution, and the home to some of the earliest world empires. In addition, post LGM expansions into the region and subsequent population movements have created a striking genetic mosaic in the region. In this study 5,174 mtDNA and 4,658 Y-chromosome samples were investigated. Lebanon’s mtDNA showed a very strong association to Europe, while Yemen shows very strong affinity with Egypt and North and East Africa. Previous Y-chromosome results showed a Levantine coastal-inland contrast marked by Y-haplogroups J1 and J2, and a very strong North African component was evident throughout the Middle East. Neither of these patterns were observed in the mtDNA. While J2 has penetrated into Europe, the pattern of Y-chromosome diversity in Lebanon does not show the widespread affinities with Europe, as indicated by the mtDNA data. Lastly, while each population shows evidence of historic expansions that now define the Middle East, Africa, and Europe, most Middle Eastern populations show distinctive mtDNA and Y-haplogroup characteristics that suggest long standing settlements with relatively little impact from other populations.
  1. WANG, C.-C., YAN, S., QIN, Z.-D., LU, Y., DING, Q.-L., WEI, L.-H., LI, S.-L., YANG, Y.-J., JIN, L., LI, H. and the Genographic Consortium. 2013. Late Neolithic expansion of ancient Chinese revealed by Y chromosome haplogroup O3a1c-002611. Journal of Systematics and Evolution, 51: 280–286.
  • Y chromosome haplogroup O3-M122 is the most prevalent haplogroup in East Asia, and provides an ideal tool for dissecting primary dispersals of the East Asians. In this study, we identified 508 individuals with haplogroup O3a1c-002611 out of 7801 males from 117 East and Southeast Asian populations, typed at two newly discovered downstream Y-SNP markers and ten commonly used Y-STRs. STR diversity shows a general south-to-north decline, which is consistent with the prehistorically northward migration of the other O3-M122 lineages. The northward migration of haplogroup O3a1c-002611 started about 13 thousand years ago (KYA). The expansions of subclades F11 and F238 in ancient Han Chinese began about 5-7 KYA immediately after the separation between the ancestors of the Han Chinese and Tibeto-Burman.
  1. DENG, Q.-Y., WANG, C.-C., WANG, X.-Q., WANG, L.-X., WANG, Z.-Y., WU, W.-J., LI, H. and the Genographic Consortium. 2013. Genetic affinity between the Kam-Sui speaking Chadong and Mulam people. Journal of Systematics and Evolution, 51: 263–270
  • The origins of Kam-Sui speaking Chadong and Mulam people have been controversial subjects in ethnic history studies and other related fields. Here, we studied Y chromosome (40 informative SNPs and 17 STRs in a non-recombining region) and mtDNA (hypervariable segment I and coding region single nucleotide polymorphisms) diversities in 50 Chadong and 93 Mulam individuals. The Y chromosome and mtDNA haplogroup components and network analyses indicated that both Chadong and Mulam originated from the admixture between surrounding populations and the indigenous Kam-Sui populations. The newly found Chadong is more closely related to Mulam than to Maonan, especially in the maternal lineages.
  1. LI, D.-N., WANG, C.-C., YANG, K., QIN, Z.-D., LU, Y., LIN, X.-J., LI, H. and the Genographic Consortium. 2013. Substitution of Hainan indigenous genetic lineage in the Utsat people, exiles of the Champa kingdom. Journal of Systematics and Evolution, 51: 287–294
  • The Utsat people do not belong to one of the recognized ethnic groups in Hainan, China. In the present study, we typed paternal Y chromosome and maternal mitochondrial (mt) DNA markers in 102 Utsat people to gain a better understanding of the genetic history of this population. High frequencies of the Y chromosome haplogroup O1a*-M119 and mtDNA lineages D4, F2a, F1b, F1a1, B5a, M8a, M*, D5, and B4a exhibit a pattern similar to that seen in neighboring indigenous populations. Cluster analyses (principal component analyses and networks) of the Utsat, Cham, and other ethnic groups in East Asia indicate that the Utsat are much closer to the Hainan indigenous ethnic groups than to the Cham and other mainland southeast Asian populations. These findings suggest that the origins of the Utsat likely involved massive assimilation of indigenous ethnic groups. During the assimilation process, the language of Utsat has been structurally changed to a tonal language; however, their Islamic beliefs may have helped to keep their culture and self-identification.
  1. Der Sarkissian C, Balanovsky O, Brandt G, Khartanovich V, Buzhilova A, Koshel S, Zaporozhchenko V, Gronenborn D, Moiseyev V, Kolpakov E, Shumkin V, Alt KW, Balanovska E, Cooper A, Haak W, The Genographic Consortium. 2013. Ancient DNA reveals prehistoric gene-flow from Siberia in the complex human population history of North East Europe. PLoS Genetics 9(2): e1003296
  • Archaeological, anthropological, and genetic research of Northeastern European populations have revealed a series of influences from Western and Eastern Eurasia. While genetic data from modern-day populations is commonly used to make inferences about origins and past migrations, ancient DNA provides a powerful tool by giving a snapshot of the past genetic diversity. This study generated and analyzed 34 mitochondrial genotypes from the skeletal remains of three Mesolithic and the Early Metal Age (7,500 and 3,500 years ago) sites in northwest Russia. Comparisons of genetic data from ancient and modern-day populations revealed significant changes in the makeup of North East Europeans through time. Mesolithic foragers showed high frequencies and diversity of haplogroup U (U2e, U4, U5a), commonly observed in hunter-gatherers from Iberia to Scandinavia. In contrast, the presence of mitochondrial DNA haplogroups C, D, and Z in Early Metal Age individuals suggested genetic influx from central/eastern Siberia. This genetic dissimilarities between prehistoric and modern-day North East Europeans/Saami suggests a strong influence of post-Mesolithic migrations from Western Europe and subsequent population replacement/extinctions. This work demonstrated how ancient DNA can improve our understanding of human population movements across Eurasia.
  1. Brotherton P, Haak W, Templeton J, Brandt G, Soubrier J, Jane Adler C, Richards SM, Sarkissian CD, Ganslmeier R, Friederich S, Dresely V, van Oven M, Kenyon R, Van der Hoek MB, Korlach J, Luong K, Ho SY, Quintana-Murci L, Behar DM, Meller H, Alt KW, Cooper A, The Genographic Consortium. 2013. Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans. Nature Communications 4:1764
  • Haplogroup H dominates present-day Western European mitochondrial DNA variability (>40%), yet was less common (~19%) among Early Neolithic farmers (~5450 BC) and virtually absent in Mesolithic hunter-gatherers. This project investigated maternal population history of modern Europeans by sequencing 39 complete haplogroup H mitochondrial genomes from ancient remains; and comparing this ‘real-time’ genetic data with cultural changes taking place between the Early Neolithic (~5450 BC) and Bronze Age (~2200 BC) in Central Europe. Results revealed that the current diversity and distribution of haplogroup H were largely established by the Mid Neolithic (~4000 BC), but with substantial genetic contributions from later pan-European cultures such as the Bell Beakers expanding out of Iberia in the Late Neolithic (~2800 BC). Newly dated haplogroup H genomes enabled the reconstruction of the evolutionary history of the haplogroup, and revealed a mutation rate 45% higher than previous estimates.
  1. LI, D.-N., WANG, C.-C., LU, Y., QIN, Z.-D., YANG, K., LIN, X.-J., LI, H. and the Genographic Consortium. 2013. Three phases for the early peopling of Hainan Island viewed from mitochondrial DNA. Journal of Systematics and Evolution, 51: 671–680
  • Hainan, an island linking mainland East Asia and Southeast Asia, lay in one of the routes of early migration to East Asia. Here, we have analyzed mitochondrial DNA control-region and coding-region sequence variations in 566 Hlai individuals from all five subgroups, Ha, Gei, Zwn, Moifau, and Jiamao. Our results suggest three phases for the peopling of Hainan. The first phase represents the initial settlement of the island as part of the African dispersal approximately 50 000 years ago. The second phase reflects colonization events from mainland Asia before the Last Glacial Maximum, which was recorded by wide distributed lineages, such as F*, B4a, and D4a.The third phase reflects population expansions under lineages F1b, M7b, and R9b after the Last Glacial Maximum and Neolithic migrations in and out of Hainan Island. Selection also started to play a role during the last phase.
  1. Elhaik E, Greenspan E, Staats S, Krahn T, Tyler-Smith C, Xue Y, Tofanelli S, Francalacci P, Cucca F, Pagani L, Jin L, Li H, Schurr TG, Greenspan B, Spencer Wells R, The Genographic Consortium. 2013. The GenoChip: a new tool for genetic anthropology. Genome Biology & Evolution 5(5): 1021-1031
  • The Genographic Project is an international effort aimed at charting human migratory history. The first phase of the project was focused on haploid DNA markers (Y-chromosome and mtDNA), while the current phase focuses on markers from across the entire genome using the newly created GenoChip. GenoChip was designed to enable higher resolution research into outstanding questions in genetic anthropology. It includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and it was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was also carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs with no health, medical, or phenotypic relevance, the GenoChip is a useful tool for genetic anthropology and human population genetics.
  1. Boattini A, Martinez-Cruz B, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D, Pettener D; The Genographic Consortium. 2013. Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata. PLoS ONE 8(5): e65441
  • Italy played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia, shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern, this project analyzed the haploid markers in ∼900 individuals from across the Italian peninsula, Sardinia and Sicily. Results show a sex-biased pattern, indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure appeared through continental Italy, likely a result of historical and demographic events. In contrast, mitochondrial (maternal) diversity is distributed homogeneously in accordance with older pre-historic events, as was the presence of an Italian Refugium during the last glacial period in Europe.
  1. Sandoval JR, Lacerda DR, Jota MS, Salazar-Granara A, Vieira PP, Acosta O, Cuellar C, Revollo S, Fujita R, Santos FR, The Genographic Consortium. 2013. The genetic history of indigenous populations of the Peruvian and Bolivian Altiplano: the legacy of the Uros. PLoS ONE 8(9): e73006
  • Since pre-Columbian times, different cultures established themselves around the Titicaca and Poopo Lakes. Yet by the time of Spanish colonization, the Inca Empire and the Aymara and Quechua languages were dominant in the region. This study focused on the pre-Columbian history of the Altiplano populations, particularly the Uros, which claim to be directly descend from the first settlers of the Andes. Results indicate that the Uros populations stand out among others in the Altiplano, while appearing more closely related to the Aymara and Quechua from Lake Titicaca and surrounding regions, than to the Amazon Arawaks. Moreover, the Uros populations from Peru and Bolivia are genetically differentiated from each other, indicating a high heterogeneity in this ethnic group. Lastly, the results support the distinctive ancestry for the Uros populations of Peru and Bolivia, likely derived from ancient Andean lineages, but further complicated by a partial replacement during more recent farming expansion, and the establishment of complex civilizations in the Andes, such as the Inca.
  1. Brandt G, Haak W, Adler CJ, Roth C, Szécsényi-Nagy A, Karimnia S, Möller-Rieker S, Meller H, Ganslmeier R, Friederich S, Dresley V, Nicklish N, Pickrell JK, Siroko F, Reich D, Cooper A, Alt KW, The Genographic Consortium 2013. Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity. Science 342, no.6155: 257-261.
  • Genographic project scientists, in collaboration with archeologists from Germany, successfully sequenced and analyzed DNA from 364 individuals that lived in Central Europe between 5,500 and 1,500 BC. What they found was that the shift in the frequency of DNA lineages closely matched the changes and appearances of new Central European cultures across time. In other words, the people who lived in Central Europe 7,000 years ago had different DNA lineages than those that lived there 5,000 years ago, and again different to those that lived 3,500 years ago. Central Europe was dynamic place during the Bronze age, and the genetic composition of the people that lived there demonstrates that. Ultimately, Central Europe is a melting pot of genetic lineages from different prehistoric cultures that lived there at different periods of time, each new one partially replacing the one before it.


  1. Clarke AC, Prost S, Stanton JL, W, White TJ, Kaplan ME, Matisoo-Smith EA, and The Genographic Consortium. 2014. From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes. BMC Genomics 15:68
  • Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA genomes (of humans and other animals). Despite the increasing use of NGS technologies and a better appreciation of their importance in answering biological questions, there remain significant obstacles to the successful implementation of NGS-based projects, especially for new users. Here we present an ‘A to Z’ protocol for obtaining complete human mitochondrial (mtDNA) genomes – from DNA extraction to consensus sequence. Although designed for use on humans, this protocol could also be used to sequence small, organellar genomes from other species, and also nuclear loci. This protocol includes DNA extraction, PCR amplification, fragmentation of PCR products, barcoding of fragments, sequencing using the 454 GS FLX platform, and a complete bioinformatics pipeline (primer removal, reference-based mapping, output of coverage plots and SNP calling). All steps in this protocol are designed to be straightforward to implement, especially for researchers who are undertaking next-generation sequencing for the first time. The molecular steps are scalable to large numbers (hundreds) of individuals and all steps post-DNA extraction can be carried out in 96-well plate format. Also, the protocol has been assembled so that individual ‘modules’ can be swapped out to suit available resources.
  1. Elhaik E, Tatarinova T, Chebotarev D, Piras, IS, Calo CM, De Montis A, Atzori M, Marini M, Tofanelli S, Francalacci P, et al. 2014. Geographic population structure analysis of worldwide human populations infers their biogeographical origins. Nature Communications 5:3513
  • Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000–130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS’s accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing.
  1. Sarkissian C, Brotherton P, Balanovsky O, Templeton JEL, Llamas B, Soubrier J, Moiseyev V, Khartanovich V, Cooper A, Haak W, The Genographic Consortium. (2014) Mitochondrial Genome Sequencing in Mesolithic North East Europe Unearths a New Sub-Clade within the Broadly Distributed Human Haplogroup C1. PLoS ONE 9(2): e87612. doi:10.1371/journal.pone.0087612
  • The human mitochondrial haplogroup C1 has a broad global distribution but is extremely rare in Europe today. Recent ancient DNA evidence has demonstrated its presence in European Mesolithic individuals. Three individuals from the 7,500 year old Mesolithic site of Yuzhnyy Oleni Ostrov, Western Russia, could be assigned to haplogroup C1 based on mitochondrial hypervariable region I sequences. In order to obtain high-resolution data and shed light on the origin of this European Mesolithic C1 haplotype, we target-enriched and sequenced the complete mitochondrial genome of one Yuzhnyy Oleni Ostrov C1 individual. The updated phylogeny of C1 haplogroups indicated that the Yuzhnyy Oleni Ostrov haplotype represents a new distinct clade, provisionally coined “C1f”. No haplotype closely related to the C1f sequence could be found in the large current database of ancient and present-day mitochondrial genomes. Hence, we have discovered past human mitochondrial diversity that has not been observed in modern-day populations so far.
  1. Vilar, M. G., Melendez, C., Sanders, A. B., Walia, A., Gaieski, J. B., Owings, A. C., Schurr, T. G. and The Genographic Consortium (2014) Genetic diversity in Puerto Rico and its implications for the peopling of the Island and the West Indies. Am. J. Phys. Anthropol., 155: 352–368
  • Puerto Ricans are genetic descendants of pre-Columbian peoples, as well as peoples of European and African descent through 500 years of migration to the island. To infer these patterns of pre-Columbian and historic peopling of the Caribbean, we characterized genetic diversity in 326 individuals from the southeastern region of Puerto Rico and the island municipality of Vieques. We sequenced the mitochondrial DNA (mtDNA) control region of all of the samples and the complete mitogenomes of 12 of them to infer their putative place of origin. In addition, we genotyped 121 male samples for 25 Y-chromosome single nucleotide polymorphism and 17 STR loci. Approximately 60% of the participants had indigenous mtDNA haplotypes (mostly from haplogroups A2 and C1), while 25% had African and 15% European haplotypes. None of the male participants had indigenous Y-chromosomes, with 85% of them instead being European/Mediterranean and 15% sub-Saharan African in origin. These results attest to the distinct, yet equally complex, pasts for the male and female ancestors of modern day Puerto Ricans.


  1. Kushniarevich A, Utevska O, Chuhryaeva M, Agdzhoyan A, Dibirova K, Uktveryte I et al. (2015) Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data. PLoS ONE 10(9): e0135820
  • Here, we characterize genetic variation in all extant ethnic groups speaking Balto-Slavic languages by analyzing mitochondrial DNA (n = 6,876), Y-chromosomes (n = 6,079) and genome-wide SNP profiles (n = 296), within the context of other European populations. We also reassess the phylogeny of Slavic languages within the Balto-Slavic branch of Indo-European. We find that genetic distances among Balto-Slavic populations, based on autosomal and Y-chromosomal loci, show a high correlation (0.9) both with each other and with geography, but a slightly lower correlation (0.7) with mitochondrial DNA and linguistic affiliation. The data suggest that genetic diversity of the present-day Slavs was predominantly shaped in situ, and we detect two different substrata: ‘central-east European’ for West and East Slavs, and ‘south-east European’ for South Slavs. A pattern of distribution of segments identical by descent between groups of East-West and South Slavs suggests shared ancestry or a modest gene flow between those two groups, which might derive from the historic spread of Slavic people
  1. ArunKumar, GaneshPrasad, Tatiana V. Tatarinova, Jeff Duty, Debra Rollo, Adhikarla Syama, Varatharajan Santhakumari Arun, Valampuri John Kavitha et al (2015) Genome-wide signatures of male-mediated migration shaping the Indian gene pool.” Journal of human genetics. Accepted online May 21, 2105
  • Multiple questions relating to contributions of cultural and demographical factors in the process of human geographical dispersal remain largely unanswered. India, a land of early human settlement and the resulting diversity is a good place to look for some of the answers. In this study, we explored the genetic structure of India using a diverse panel of 78 males genotyped using the GenoChip. Their genome-wide single-nucleotide polymorphism (SNP) diversity was examined in the context of various covariates that influence Indian gene pool. Admixture analysis of genome-wide SNP data showed high proportion of the Southwest Asian component in all of the Indian samples. Hierarchical clustering based on admixture proportions revealed seven distinct clusters correlating to geographical and linguistic affiliations. Convex hull overlay of Y-chromosomal haplogroups on the genome-wide SNP principal component analysis brought out distinct non-overlapping polygons of F*-M89, H*-M69, L1-M27, O2a-M95 and O3a3c1-M117, suggesting a male-mediated migration and expansion of the Indian gene pool. Lack of similar correlation with mitochondrial DNA clades indicated a shared genetic ancestry of females. We suggest that ancient male-mediated migratory events and settlement in various regional niches led to the present day scenario and peopling of India.
  1. Arunkumar, GaneshPrasad, Lan‐Hai Wei, Valampuri John Kavitha, Adhikarla Syama, Varatharajan Santhakumari Arun, Surendra Sathua, Raghunath Sahoo et al. (2015) A late Neolithic expansion of Y chromosomal haplogroup O2a1‐M95 from east to west. Journal of Systematics and Evolution (2015). Accepted online March 31, 2015
  • The origin and dispersal of Y-Chromosomal haplogroup O2a1-M95, distributed across the Austro Asiatic speaking belt of East and South Asia, are yet to be fully understood. Various studies have suggested either an East Indian or Southeast Asian origin of O2a1-M95. We addressed the issue of antiquity and dispersal of O2a1-M95 by sampling 8748 men from India, Laos, and China and compared them to 3307 samples from other intervening regions taken from the literature. Analyses of haplogroup frequency and Y-STR data on a total 2413 O2a1-M95 chromosomes revealed that the Laos samples possessed the highest frequencies of O2a1-M95 (74% with >0.5) and its ancestral haplogroups (O2*-P31, O*-M175) as well as a higher proportion of samples with 14STR-median haplotype (17 samples in 14 populations), deep coalescence time (5.7 ± 0.3 Kya) and consorted O2a1-M95 expansion evidenced from STR evolution. All these suggested Laos to carry a deep antiquity of O2a1-M95 among the study regions. A serial decrease in expansion time from east to west: 5.7 ± 0.3 Kya in Laos, 5.2 ± 0.6 in Northeast India, and 4.3 ± 0.2 in East India, suggested a late Neolithic east to west spread of the lineage O2a1-M95 from Laos.
  1. Martínez-Cruz, Begoña, Isabel Mendizabal, Christine Harmant, Rosario de Pablo, Mihai Ioana, Dora Angelicheva, Anastasia Kouvatsi et al. (2015) Origins, admixture and founder lineages in European Roma. European Journal of Human Genetics. Accepted online September 16, 2015
  • The Roma, also known as ‘Gypsies’, represent the largest and the most widespread ethnic minority of Europe. We performed a high-resolution study of the uniparental genomes of 753 Roma and 984 non-Roma hosting European individuals. Roma groups show lower genetic diversity and high heterogeneity compared with non-Roma samples as a result of lower effective population size and extensive drift, consistent with a series of bottlenecks during their diaspora. We found a set of founder lineages, present in the Roma and virtually absent in the non-Roma, for the maternal (H7, J1b3, J1c1, M18, M35b, M5a1, U3, and X2d) and paternal (I-P259, J-M92, and J-M67) genomes. This lineage classification allows us to identify extensive gene flow from non-Roma to Roma groups, whereas the opposite pattern, although not negligible, is substantially lower (up to 6.3%). Finally, the exact haplotype matching analysis of both uniparental lineages consistently points to a Northwestern origin of the proto-Roma population within the Indian subcontinent.
  1. Jada Benn Torres, Miguel G. Vilar, Gabriel Torres, Jill B. Gaieski, Ricardo Bharath Hernandez, Zoila E. Browne, Marlon Stevenson, Wendell Walters, Theodore G. Schurr, and The Genographic Consortium (2015) Genetic Diversity in the Lesser Antilles and Its Implications for the Settlement of the Caribbean Basin. PLoS One. Accepted for publication October 1, 2015
  • Historical discourses about the Caribbean often chronicle West African and European influence to the general neglect of indigenous people’s contributions to the contemporary region. Consequently, demographic histories of Caribbean people prior to and after European contact are not well understood.  Although archeological evidence suggests that the Lesser Antilles were populated in a series of northward and eastern migratory waves, many questions remain regarding the relationship of the Caribbean migrants to other indigenous people of South and Central America and changes to the demography of indigenous communities post-European contact.  To explore these issues, we analyzed mitochondrial DNA and Y-chromosome diversityin 12 unrelated individuals from the First Peoples Community in Arima, Trinidad, and 43 unrelated Garifuna individuals residing in St. Vincent.  In this community-sanctioned research, we detected maternal indigenous ancestry in 42% of the participants, with the remainder having haplotypes indicative of African and South Asian maternal ancestry.  Analysis of Y-chromosome variation revealed paternal indigenous American ancestry indicated by the presence of haplogroup Q-M3 in 28% of the male participants from both communities, with the remainder possessing either African or European haplogroups.  This finding is the first report of indigenous American paternal ancestry among indigenous populations in this region of the Caribbean.  Overall, this study illustrates the role of the region’s first peoples in shaping the genetic diversity seen in contemporary Caribbean populations.

Family Tree DNA Thanksgiving Week Sale Coupons

2015 ftdna week 2

Week 2 of Family Tree DNA’s sale is here.  Existing customers should receive an e-mail announcing their weekly coupon, or you can view your coupon by signing in to your account and looking for the Mystery Reward featured prominently at the top of your account.2015 Mystery Gift

Coupons can be used in addition to the sale prices, shown below, for products.

2015 ftdna sale prices

Please list your coupon discounts available, if you’re not going to use them, for others to use in the comments of each week’s blog article about the sale and sharing.  You can also request something specific.

Here are a few from accounts that I manage.  I used 4 coupons myself last week – so Happy Holidays to me and my ancestors I’m going to discover a little more about. If you’ve been wanting to test a family member or upgrade, now might be a good time.

Each coupon can only be used once (so first come, first serve on shared codes) and expires the following Monday when the next coupon is issued.

Coupon Type Discount Code
$5 off Y37, Y67 or Y111 R8SHOBHCDNS
$5 off Y37, Y67 or Y111 R8Q4VRCGLY9
$5 off Y37, Y67 or Y111 R8PC7HM9ZIL
$5 off Y37, Y67 or Y111 R809YU5BGO9
$5 off Y37, Y67 or Y111 R8QBAA1TU9B
$5 off Y37, Y67 or Y111 R8IBN3QJ570
$10 off Y37, Y67 or Y111 R8X8OV5LYVP
$10 off Y37, Y67 or Y111 R8XZ53JTF59
$10 off Y37, Y67 or Y111 R878FH559H4
$25 off Big Y R816GSLS0IC
$5 off mtDNA R86VDXCM6SF
$10 off mtDNA R83J02G4021
$10 off mtDNA R8MAFLM4MY4
$5 off Family Finder R8FKW1Y6UAV

Click here to order or upgrade tests and redeem coupons.

Phebe (c1747-c1803), Is Jotham Brown’s Wife Zopher Johnson’s Daughter?, 52 Ancestors #99

I love her name, Phoebe.  There have been other Phoebe’s in the family line – her granddaughter, Phoebe Crumley, assuredly named for her.  Nine generations later, we have another Phoebe, but her parents had never heard of Phoebe Brown or Phoebe Crumley.  I like to think that they were somehow influenced by forces unseen to select a beautiful family name.

We don’t know a lot about the original Phoebe, Jotham Brown’s wife, whose name was also spelled Phebe, Pheby and Feby.  For example, we don’t know who her parents were.

There has been speculation for years based on the close relationship of the Brown and Johnson families in Frederick County, Virginia and Greene County, Tennessee, that Phebe was the daughter of Zopher Johnson the Elder.  I wish she was, because I think Zopher is a really cool name and someone else has already done a lot of quality research on this family who was originally found near Philadelphia, but alas, I really don’t think so.  Let’s take a look at Phoebe’s life and see how the evidence stacks up.

We know that Phoebe was living in Virginia in 1768, because on the 1850 census, her daughter, Jane Brown Cooper gave Virginia as her birth location.

We also know that Zopher Johnson, “the Elder” who is Phoebe’s speculative father, was living at the Forks of the Delaware between 1754-1762 when his son, Zopher Johnson, Sr., was born.

Zopher Johnson the Elder clearly did moved to Virginia sometime before 1781 when he was on the tax list in Frederick County, VA.  This is also the first location where we find Zopher Johnson living in the same location as the Jotham Brown family.  They are both found on the 1782 tax list.  We also know that Jotham Brown was living in Hampshire County in 1778 and remained there until about 1781.

Spring Gap Road with Mountain

This land in Hampshire County is still very remote and wooded today as shown by Google Maps street view.  I can’t even imagine how forbidding it looked 237 years ago when the first settlers were obtaining land grants.

Spring Gap Hamphire Co

Spring Gap and Bethel Road where they cross the creek feeding into Little Cacapon River.  This is the area where Jotham and Phebe Brown owned land.

In 1778, Jotham Brown would have been about 38 years old and Phebe maybe a few years younger.  Given that their oldest daughter, Jane was born in 1768, and is believed to be their oldest child, Jotham would have married Phoebe about 1767 – wherever they were both living at the time.

The problem is that we don’t know where they living in 1767, although it’s likely they were living in Virginia given that their daughter was born there a year later in 1768.

Had Zopher Johnson moved to someplace in Virginia by 1767?  If so, where?  He wasn’t in Hampshire County, or at least not that we can tell, although most Hampshire County records are missing, but Virginia land grants for this area exist.

Conversely, was Jotham Brown living in Pennsylvania in 1767?  There are no records that indicate that’s the case – but it’s possible.

However, in order for Zopher Johnson’s daughter to marry Jotham Brown, they had to be in the same location at the same time.  You can’t court someone who doesn’t live nearby – at least not then in Virginia.

By 1781/1782, both families had moved to Frederick County, VA.  Was this move coordinated or pre-planned or simply circumstantial?

The 1782 tax records tell us that Jotham Brown and Phoebe had 8 children, which could mean that they had been married roughly as long as 16 years, about 1766, which correlates with their the known birth year of Jane in 1768.

There was a strong Quaker presence in Frederick County, and the Crumley and Babb families into which the Brown family would eventually marry years later in Greene County, TN were both Quaker.  Did the Johnsons and Browns live near the Quaker families on Apple Pie Ridge in Frederick County?

Catherine Crumley 2

It’s likely, because, in 1787, when Berkeley County, West Virginia was formed from Frederick County, the Johnson family is found in Berkeley County.  So was William Crumley whose land actually spanned the states, with the state line running between the fence and the white barn below.  This area was heavily Quaker, but not to the exclusion of others.

William Crumley 6

By 1790, Zopher Johnson had moved to Greene County, Tennessee.  Within a few years, William Crumley’s son, William (the second), moved to Greene County, TN as well.

However, Jotham and Phoebe Brown didn’t stay long in Frederick County.  They were gone by 1783 when they bought land in Botetourt County, VA on Brush Creek (below) where they lived until Jotham died sometime between March of 1797 when he and Phoebe sold a plot of land and May of 1800 when Phoebe and Jotham’s eleven children sold Jotham’s remaining land in preparation to move to Greene County, TN.  It’s that deed that tells us the names of all of Jotham and Phoebe’s children, at least the ones that were living at that time.  We don’t know of any that died, but in that time and place, for all of your children to live to adulthood would be remarkable indeed.

brush creek mountain from the creek

By this time, Phoebe’s oldest daughter, Jane, had married Cristopher Cooper and Phoebe probably accompanied them when they moved to Greene County.  Of Phoebe’s eleven children, nine moved to Greene County and two moved to Kentucky – so certainly Phoebe went someplace and didn’t stay in Montgomery County alone with no family and no land. That would have been a death sentence.

By this time, the Johnson and Crumley families were already established in Greene County.  The Brown/Cooper family would join the Johnson and Crumley families in the Cross Anchor area.  Was this planned, and if so, as a function of knowing each other in Frederick County…or was there something more – an already established family tie other than Sylvanus having married Ruth Johnson in Montgomery County?  If Phoebe was Zopher’s “the Elder’s” daughter, Ruth would have been Sylvanus’s first cousin.  This marriage does tell us that at least some of the Johnson family was also in Montgomery County.

William Crumley (the second) had helped to establish the Methodist Church in Greene County, TN in 1797.  At least two of Phoebe Brown’s sons-in-law were Presbyterian as both Christopher Cooper and William Stapleton signed a religious petition in Botetourt County in 1785 to establish a Reformed Church of Scotland.  Zopher the Elder’s son, Zopher Sr., is buried in the Kidwell Cemetery in Greene County which was a Methodist churchyard at one time, and some of his descendants married Presbyterian, so although we don’t know Zopher the Elder’s religious conviction, it doesn’t appear to be Quaker.  He’s not mentioned in any Quaker church records.

We know that Phoebe Brown was still alive in 1802 when she witnessed the sale of land by her daughter Jane and Jane’s husband, Christopher Cooper in Montgomery County.  By December 1803, Jane and Christopher were purchasing land in Greene County, and it’s very likely that Phoebe was along with them with her two youngest, unmarried children.  By this time, Phoebe would have been less than 60 years old, probably about 55 given that she had her last child about 1790 – not elderly by any means.

Cooper land

We don’t know when Phoebe passed away, but assuming she did not die before leaving Montgomery County, she would be buried on her daughter, Jane’s land in what is now referred to as the “Old Cooper Cemetery.”  Cousin Stevie Hughes set a beautiful marker so that it will never be lost in the underbrush again.

There are other tidbits and hints too – but those tidbits don’t speak favorably about Phoebe being the daughter of Zopher Johnson.

Phoebe and Jotham Brown had the following children, according to Stevie Hughes excellent research:

  • Jane Brown, born 1768 in Virginia, married Christopher Cooper on October 20, 1786 in Montgomery County, VA.  She died between 1856 and 1859 and is buried in the Old Cooper cemetery on Spider Stines Road near the Cross Anchor area in Greene County, on the land where she had lived.

Old Cooper burial stone

  • Sylvanus Brown born about 1771, married Ruth Johnson, daughter of Moses Johnson, a son of Zopher Johnson, in 1794 in Montgomery County, VA.  They moved to Greene County in 1805 and lived on Smith’s Fork, also known as Tillman’s Fork, very close to William Crumley who also lived on Tillman’s Fork.  In fact, four of Sylvanus’ children married Crumleys.
  • David Brown born about 1773 married Nancy Craig in 1795 in Montgomery County.  He also came to Greene County where he served in the War of 1812.
  • John Brown was born about 1774, married Elizabeth Wilson and migrated from Montgomery County to Lincoln County, KY by 1802.
  • Esther Brown born about 1775 married John Willis in 1793 in Montgomery County.  She was in Montgomery County in 1818 when John died and in 1820, but is believed to have migrated to Greene County by 1830.
  • Elizabeth Brown born about 1780 married Joshua Wilson in Lincoln County, KY in 1802.  She apparently moved there with her brother John.
  • Mary Brown born about 1780 married William Stapleton in Montgomery County.  They were in Greene County by 1812.  The family migrated to Hawkins Co., TN and then to Lee Co., VA where Mary died in 1843 and is buried in the Roberts Cemetery.  They lived close to sister Lydia Brown and her husband, William Crumley the Third.

Mary Brown Stapleton gravestone

  • Jotham Brown Jr. was born October 2, 1783 and moved with his family to Greene County where he married Margaret “Peggy” Maloney and served in the War of 1812.  He lived on the Waters of Lick Creek.  There is a Malone Cemetery on the land by the Union Church where this couple may be buried.  This is very near Tilman’s Fork.

malone cemetery

  • Mercy Brown born about 1784 married William Babb in 1807 in Greene County,  eventually settling in Hawkins County, TN..  The Babb family had lived near the Crumley family in Frederick County, VA and were Quakers.
  • William Brown was born about 1789 and married Martha Blair in 1811.  He likely died young with only one son and possibly a daughter.
  • Lydia Brown, the youngest child, was born about 1790 in Montgomery County, VA.  She would have come with her mother and siblings to Greene County where she married William Crumley (the third) on October 1, 1807.  There has been a lot of discussion, along with mitochondrial DNA testing, to determine whether or not Lydia died before 1817 or whether she lived beyond 1817.  While this may seem trivial, it isn’t, at least not to me, because my ancestor, Phebe Crumley was born to William Crumley (the third) and his wife in March of 1818.  One William Crumley married in October of 1817 to one Elizabeth Johnson.  William Crumley the Second and his son, William Crumley the Third were both living in Greene County at that time.  Suffice it to say that based on mitochondrial DNA testing, it appears that William Crumley (the third) was not the William Crumley who married Elizabeth Johnson in 1817.

With all of these children, if one’s father was named Zopher, wouldn’t you think one child, or one grandchild would be named Zopher?  Well, there isn’t, except for a son of Sylvanus but then Sylvanus married a granddaughter of Zopher Johnson….so that isn’t unexpected.  No other children or grandchildren named anyone Zopher.

To me, this is fairly damning evidence – but it isn’t everything.

Several weeks ago, I set a “honey pot” trap on  That means I intentionally added Zopher Johnson to my family tree.

Ancestry Zopher Johnson

This would cause anyone who matched my DNA and also had Zopher Johnson in their tree to pop up as a shakey leaf DNA match.  Now, clearly, some of these could be valid in that Sylvanus Brown married a Johnson granddaughter of Zopher – so I could legitimately match those descendants who legitimately have Zopher in their tree.  I could certainly match them through the Brown side.

Needless to say, I have to be exceedingly careful when I evaluate those matches – well, I would be – if I had any matches to descendants of Zopher Johnson.  At Family Tree DNA, I don’t have any Zopher matches either except for people from my own line who have Zopher in their tree as Phoebe’s father.  What I’m looking for are matches to people with whom I share no other common ancestor.

We recently found a man who descends from Zopher Johnson’s son and whose family did not intermarry with any Crumley lines.  He graciously tested, and there are no matches between any of the known Crumley descendants of Phoebe and Jotham Brown.  I have several cousins who have tested.

There are no matches to our Zopher Johnson descendant by any of the people who descend from Phoebe, Jotham Brown’s wife.

There are two things to consider – the distance of the proposed relationship and that you can’t prove a negative.

This relationship is quite a ways back in the tree, if it exists, but still, you could expect the Johnson descendant match to someone since there are several cousins who have tested.  For example, Zopher is 7 generations back from me, counting my father as generation 1, but others descended from this line are as much as 2 generations closer.

Unfortunately, we can prove, genetically that Phoebe DOES descend from Zopher Johnson (if she does), but we can never prove that she DOES NOT descend from Zopher Johnson – at least not this far removed generationally.  You simply can’t prove a negative in this case.  At this point in time, there are no matches and it doesn’t look like Phoebe is Zopher Johnson’s daughter.

We do have the mitochondrial DNA information for Phoebe, Jotham Brown’s wife, but since Zopher Johnson the Elder’s wife is unknown and there are no known daughters, there is no one available who descends from Zopher Johnson’s wife to test.

In time, there could be DNA matches that contradict the combined genealogical, location and autosomal DNA match implications so far.  But I have a feeling that’s going to be a very, very long wait.  I really don’t think that Phoebe, the wife of Jotham Brown, is the daughter of Zopher Johnson the Elder, although I’d certainly welcome any unknown information of any kind proving or even hinting otherwise.

Regardless of who her parents were, Phoebe moved a lot for a pioneer woman.  She married about 1767 and had a child someplace in Virginia in 1768.  She was first found in Hampshire County in 1778 with husband Jotham Brown.  Just a few years later, in 1781, and with a family, they moved across several mountains to Frederick County, VA where they only stayed for a year or two.  Then, in 1783, probably quite pregnant, Phoebe headed off to Botetourt County, the part that would become Montgomery County, VA where they lived on Brush Creek.  She continued to have children until about 1790 when Phoebe would have been in her early/mid-40s.  You would think by then the family would have been quite established, especially since her older children were marrying and settling nearby in Montgomery County, but that wasn’t the case.  After Jotham’s death sometime between 1797 and 1800, the entire family picked up once again and moved on, most of them to Greene County, TN.

In just under 25 years, from 1778 to 1802, Phoebe lived in 4 different frontier locations, all of which required exceedingly difficult work to clear the lands and build cabins to make them inhabitable.  This would be hard enough without children, but she had at least 11, in anything but optimal conditions, plus any she buried along the wagon trail or on those lands where they lived.  Those children, she would have had to leave behind when they moved on.

Phoebe was no shrinking violet, no wall-flower and clearly wasn’t afraid of hard work. I can’t help but wonder if she delivered her own babies, then rested for a bit before going to chop firewood to fix supper.

From today’s perspective of a nice heated house with no drafts, watching the snow fall, I can’t even imagine the privations of Phoebe’s life.  Yet, she not only survived, she thrived as did her children…who had children…who had children…who eventually had me.  I think when I want to complain about something, I’ll stop and think about Phoebe first.  After all, there is a part of her in me…and I’m doubting seriously if Phoebe, the woman who survived unknown challenges and created a family life on four frontiers, was very tolerant of whiners and complainers.

Update:  I’ve never had to update an article before I hit the publish button, but there’s a first time for everything.  I’m adding this tidbit with the hope that it will ring a bell with someone and produce actual verifiable information.

Recently, the Jotham Brown line had a Y match to a Sylvanus Brown/Esther Dayton family from Long Island, NY who was found there in the early 1700s.  Sylvanus is such an unusual name that along with the Y DNA match, it’s quite compelling.  We know they do share a common Brown ancestor, we just don’t know where or when.

In addition, another long-time researcher tells me that the Cooper family was already established in Montgomery County when Jotham Brown and Phebe moved there in 1783.  Jotham and Phebe’s daughter, Jane, married Christopher Cooper, son of James, whose will was contested, and whose brother was named…Sylvanus.  So we have two families that include the very unusual name of Sylvanus meeting (again?) in Montgomery County, VA.

Furthermore, the Zopher Johnson line that went to Illinois carries a story that Zopher Johnson Jr. (the grandson of Zopher Johnson the Elder) had an inheritance on Long Island but never pursued it due to lack of money.  True?  We don’t know, but that’s a very odd location for oral history out of Illinois.

Is this coincidence?  We don’t know, but if anyone has any information about the Johnson, Brown or Cooper families that can unite them on Long Island (or elsewhere) or provide an explanation for what is today, circumstantial evidence, I would be exceedingly grateful.

2015 Family Tree DNA 11th International Conference – The Best Yet

ftdna 2015

Family Tree DNA held their 11th International Conference of Genetic Genealogy from November 13-15, 2015 in Houston, Texas.

2015 ftdna pano

First and foremost, I want to thank Max Blankfeld and Bennett Greenspan, founders of Family Tree DNA, for hosting and subsidizing this conference.  It’s the only conference of its type anyplace in the world and Family Tree DNA has been hosting this conference now for 11 years.

Now to the fun part – the conference itself.

The first year I attended, which was the first conference in 2004, I remember thinking and probably saying as well that I felt like I was drinking from a firehose.  It reminded me of grad school.

This was both the good news and the bad news. The good news was that I loved every minute.  The bad news is that I didn’t understand everything that was being said.  And there was one session in particular where I was sure I had wandered into the wrong conference room…but when I saw Max and Bennett, I was sure I was in the right room….but not at all sure I was in the right place.

However, we were all newbies together because the field of genetic genealogy didn’t exist until about the year 2000….so these were truly first baby steps – although they certainly didn’t seem like it at the time.

Fast forward to this year.  Thanks to technology and the leaders in this field, the edge of the envelope is still being pushed, and there are still very exciting topics on the agenda for those of us who know a bit more now.  Those topics didn’t even exist in 2004.

Looking at the 2015 agenda, there were 7 main sessions, plus the breakouts and lab updates and such.  Of those 7 main sessions, none of them, not one, could have been presented at the conference just 5 years ago.  Why?  Because the products and the tools didn’t exist then.  We have advanced a HUGE distance in just 5 years and much of this has been due to citizen scientists.

But not every conference session was at an advanced level.  Thanks to Max and Bennett, there were also breakout sessions for newbies who I’m sure, feel like they are drowning in that fire hose.

There were 206 attendees at this year’s conference, and of those, I think there were 70 first-timers.  I surely hope they come back, because it does get easier as you learn more about the topics at hand.

The conference always begins with a reception hosted by Family Tree DNA on Friday evening, the ISOGG party (where we all contribute food and beverages) on Saturday evening and whoever is left on Sunday evening tends to gather and eat the nonperishable leftovers from Saturday’s gathering.

Indeed, we have fun and visit from the time we get up in the morning until we close our eyes each evening.  We take advantage of every minute.

Dressing the Part and Sharing the Love

You can tell you’re in a group of genetic genealogists.  Just look at their clothes – Katherine Borges and Linda Magellan’s clothes in particular.  They could start a helix clothing line!

2015 ftdna helix dresses

But it doesn’t end there.

2015 ftdna helix hose

Look at the carpet too.

Not only that, I’m sure Katherine’s nail tech is sticking pins in a voodoo doll of Katherine.

2015 ftdna helix nails

Katherine’s break-out session was titled, “Nulls, the Value of Nothing” and she had named her nails 389, 425, 464, etc. for the markers that sometimes have null values.

I want to infect you with some of the rejuvenation and excitement we feel, especially those of us returning year after year.  It’s how we charge our genetic batteries.

The conference, aside from providing us with an incredible learning opportunity, provides us with the opportunity to network and to visit with each other.  There is indeed a lot of shop-talk going on…but there is also a lot of just plain visiting and laughing and fun.  It’s kind of like a cross between a class reunion, a professional academic conference and a family reunion.  And really, it’s the only place you can go and have these kinds of discussions.  I mean truly, your family does not want to hear about this over the Thanksgiving table.  But your genetic genealogy friends do!

Jennifer Zinck did us all a huge favor and took exceptional notes during the conference in the sessions she attended.  Her posts are at these two links.

Due to the internet speed in the hotel, Jennifer was not able to upload any photos.  I’m not about to recreate all of Jenn’s hard work, so what I am going to do is share some photos and what I considered to be salient and high points of the conference.

Now for the bad news, my camera battery ran out at the end.  I thought I had an extra one with me, but I didn’t, so I don’t have photos of every main session, nor of the breakouts.

Update:  Please note that the speaker’s slides are available here.


2015 ftdna max welcome

Max and Bennett always open the conference with some comments and a welcome.  Bennett shared a story I never knew about him.  When Bennett was 13 years old, he drew his first genealogy pedigree chart after talking to his grandparents and older family members.  While that is remarkable enough, he was bright enough to draw it – IN PENCIL.  I’m still not bright enough to do that apparently.

2015 ftdna bennett welcome

If you ever wonder if the cosmos has a sense of humor, consider that Bennett has paid to test 68 Greenspan men and none of those 68 men have been a match to his line.  However, 15 years into this adventure, a Mr. Green approaches Bennett at a conference and wonders if they are related.  Bennett is tired of paying for unproductive tests and really doesn’t think there is ANY chance of Mr. Green matching him.  So, Mr. Green pays for his test and you know what’s coming don’t you….yep….Mr. Green is Bennett’s closest match….and Mr. Green has a village name in the old country.  I’m betting Bennett is going to be going on a trip soon to that village….don’t you!  Maybe Mr. Green will go along.  I’m extremely glad Bennett is finally reaping the harvest of his infinite patience.

Peter Sjolund – Y DNA Maps Scandinavian Family Trees from Medieval Times and the Viking Age

2015 ftdna peter sjolund

The first presentation was Peter Sjolund from Sweden.

2015 ftdna sjolund scandinavia

The Scandinavians have become extremely excited about genetic genealogy and have been very active in projects and testing, including Big Y tests.

The first thing that happened was that I became exceedingly envious that the Hersesson family Peter was discussing in his presentation has 18 generations of documented family.

The great question to be answered was whether or not the farmer family was genetically related to the noble family.

2015 ftdna sjolund tree

The descendants were able to find enough direct male descendants to Y DNA test, and the answer was no, they weren’t.  However, they discovered that STR markers just didn’t reach far enough back in time to provide matching and delineation or the farmer line who did match each other, so they added the Big Y test and managed to prove the oral history from 1350 to present.

In essence, Peter was building the family tree with SNP and STR data instead of records and the two sources confirm each other.

You know those stories about “there were two brothers – one went east and one went west?”  Well, it’s true in this case, and using SNPs from the Big Y, Peter was able to prove it.

2015 ftdna sjolund snps

Peter’s next slide shows the historical events that spread these SNPs.

2015 ftdna sjolund map

It was so enlightening to see exactly how this worked to prove the families, but also to connect to ancient history.  Max summed it up well at the end when he said that “testing is not only a contribution to family history but also to confirming history itself.”

Razib Khan – Populations in Autosomal DNA

Razib, a doctoral candidate studying evolutionary genomics at UC Davis has been working with Family Tree DNA on updating their myOrigins product.

2015 ftdna khan

I loved Razib’s comment that all of this would have been considered science fiction 15 years ago.  He’s absolutely right.

Razib described our autosomal ethnicity as being a rich diaspora and that it has to be measured, matched and then reduced to 50 narrative threads.  He said it also gets a bit messy sometimes, because if we don’t fit into a thread exactly, or maybe our correct thread doesn’t have a deep enough reference population, we’re forced into the next best genetic thread – even though it may make no sense to us today.  That does explain some of the odd results we see from time to time.

2015 ftdna khan digest

In order to improve myOrigins, the next version, due out in mid-late first quarter of 2016 will include several new reference populations, including a second reference population for Native American people.

2015 ftdna khan populations

Not all of Razib’s presentation was about ethnicity – some was about recombination – which of course, when you think about it, affects ethnicity dramatically.

He mentioned, almost in passing that in each meiosis, a male has 25 recombinations and a female, 35.  This has the potential to affect the amount of autosomal DNA that we inherit through an all-female line of ancestors, for example, as compared to an all-male lineage.  This means, in essence, that we are likely, over time, to carry more of our male lineages, or lineages heavily male, than we are do all female lineages – because the DNA divides less.  I have to wonder if this is built into any of the calculations for relatedness by any of the vendors?

Razib mentioned that based on the results of ancient genome sequencing that the people of ancient Europe looked much different than the Europeans of today.

Razib also mentioned at least three instances where a combination of ancient DNA sequencing, population genetics and oral history have, together, proven the oral history to be accurate.  One of these instances is the Aboriginal oral stories of the tribes in Australia that recall an Australia with a very different shoreline than today’s continent.

2015 ftdna khan dreamtime

In the slide above, the light tan areas are now underwater, but the Aboriginal people still carry stories about these areas that have been “discovered” underwater.

2015 ftdna khan giants

Another “myth” is of giants in Biblical times.  Recently one of the remains excavated was nearly 7 feet tall – a person who would surely have been considered a giant among men of that time.

Razib also talked a bit about full genome sequencing and a few other speakers touched on it as well.  In essence there are four issues relative to full genome sequencing for the consumer marketplace.

  • The cost of sequencing itself.
  • The current lack of and cost of developing tools to compare full genomes.
  • The knowledge of how to utilize the comparative results in a genetic genealogy context.
  • The lack of any comparative database of other people.

Yes, I know that the other forms of DNA testing also started out with no data base, but those tests didn’t cost thousands of dollars either.  So, in a nutshell, the technology to reduce the cost of the test itself hasn’t reached the level at which the consumer marketspace would embrace that testing.  That’s probably when the work will be done on the tools, if at all.  We really don’t know that more, in this case, full genome sequencing, would be enough better to warrant additional testing and development.

Razib closed by wondering if we will be able one day to “recreate the face of our ancestor” by utilizing the combined DNA of their descendants.

2015 ftdna khan faces

I have to admit, this would be VERY cool.  It will be interesting to see what the next decade brings us in terms of technological advances.

I know one thing, if one had to do the “rebuild” by hand, the way I had to do the spreadsheet for James Crumley born in 1712, there won’t be very many faces recreated.  Hopefully, by then, we’ll have better tools.

Razib’s memorable comment:  “Treasure your exceptions.”

Dr. Michael Hammer – R1b and the Peopling of Europe: an Ancient DNA Update

2015 ftdna hammer

I could hardly wait for this presentation by Michael Hammer.

2015 ftdna hammer ancient

For the past two years, Michael has updated us on the cumulative finds of ancient DNA, and translated or speculated upon what that means or will mean.  Michael says that ancient DNA has changed the way we think of human origins and it will continue to do so in the future.  I think that’s one the most dramatic understatements I’ve ever heard.

He also mentioned that humans incur about 70 mutations throughout their genome in each generation.

Michael went on to remind us that just because we find a population, as defined by a SNP, in very high numbers in a location today, doesn’t mean that is the origin of the population.  The best example is that because R1b is found in about half of the European males today, it was long assumed that R1b was birthed in Europe – but it wasn’t.

2015 ftdna hammer reconstruct

Then Michael dropped the bomb on us – R1b is ANE and specifically is found among the Yamnaya.  We had discussed this possibility last year, because no R1b is found in the earliest hunter-gatherer ancient remains in Europe.  Subsequent research proved it.  R1b comes from the Russian Steppes as is proven in the Haaks paper published in June 2015.

Today, 10 ancient Yamnaya samples have been analyzed, and all 10 are R1b.  Hmmmm….

I wrote about the Yamnaya here.

One of the factors that has helped immensely with this problem is that in 2014, there had been about 30 ancient DNA samples sequenced and in 2014, there had been less than 80 sequenced.  Today that number is at 160 and unexpected revelations are occurring.

We’ve known there were two populations for a long time that settled in Europe, the original-hunter gatherers and the farmers, but we didn’t know about a third population until relatively recently.  Ironically, the day after the conference, word of a 4th population, from the Caucasus, broke.

2015 ftdna hammer europe

The last group anyone expected R1b to emerge from was the ANE.

2015 ftdna hammer ane

This map shows the influx of various cultures into Europe, and when.

2015 ftdna hammer migration

Which haplogroups arrived when?

2015 ftdna hammer haplogroups

Oh, you wanted SNPs?  Ok, here goes!

2015 ftdna hammer snps

One word of caution from Michael is that when reading papers, understand that they may not always be comparing apples and apples.  For example, the reason one SNP may not be present in a paper is not because it’s absent in the population or that particular sample, but because that lab for whatever reason, didn’t test for it.  So, no assuming nor drawing non-match inferences allowed.

I had discovered this recently when reading a mitochondrial paper.  They only tested for select locations and not others.  Makes me absolutely crazy.

BreakOut Sessions

Emily Aulicino talked about “Supercharging Your Project Members.”
Jim Brewster talked about “Getting Started with GAP.”
Dr. Doron Behar discussed “The Origin of Ashkenazi Levites.”

I attended Dr. Behar’s lecture.

2015 ftdna behar

Doron’s focus for many years has been on the Jewish population.

2015 ftdna behar levites

Recently, he has re-evaluated the available data and used new Big Y data in order to attempt to define the source of the Levite population.

2015 ftdna behar r1a1

I particularly like this slide, below, because it so succinctly illustrates the difference between traditional Sanger sequencing which is what is being done when you take the traditional 12, 25, 37, 67 and 111 markers tests, and the next generation sequencing like the Big Y.

2015 ftdna behar ngs

Sanger sequencing is illustrated on the bottom.  Reactions at specific locations are measured and then analyzed by humans and then recorded to reflect a specific value.

Next generation sequencing utilizes scanning.  In the top part of the slide, you can see several scans of each area.  The quadrant on the left, if I’m counting right, had 27 scans of the same area.  This is called coverage.  The scans then are recorded and they have to be aligned.  As you can see, the start and stop locations are not the same.  Then the results at a particular location are counted.  In this case, the dark squares show the same value in a particular location.  So not all of the scans show the same thing.  Of course, the value is compared to a reference chart for what is “normal” and then the variant values are recorded.  Assuming in this case that the variant values are colored dark blue, 18 recorded the same variant value but one is misaligned.

So, if you’re wondering why there is so much discussion about read coverage, alignment and valid results in Big Y tests…this is it in a nutshell.  Not to mention, as shown in the upper right quadrant, sometimes that location doesn’t read at all, so we have what are called “no-calls” to muck up the gears.  Family Tree DNA has to decide what is a “valid” result when they return results to customers.  Not everyone agrees with that threshold, so some people and groups do their own analysis.  What really is valid?  We don’t know for sure but the reason that the ISOGG tree requires Sanger sequencing before adding a new SNP location to a tree is to verify that the Big Y scans are accurate.

Doron designed a study utilizing both STR and SNP markers found in the Big Y to discover additional information about the source of the Levite population.

2015 ftdna behar study design

Based on several samples both within and outside of the known Jewish community, plus one family, the Horowitz, whose genealogy reaches far back into Jewish history, Doron was able to confirm that the Levite population did arise in the Near East.

2015 ftdna behar origins

I loved Doron’s comment, “The role of a scientist is to doubt.”

I would add that’s also the role of a genealogist and in particular, a genetic genealogist.

But Doron said something else EXTREMELY profound and I was extremely heartened to hear it.

“I was wrong.”

Yep, that’s what he said.  Let me tell you why I found this so inspiring and encouraging.

In the academic community, researchers are encouraged to research and publish their findings, along, of course, with their research data and the reasons why they reached their conclusion.

In the future, new information or technology may become available, and that original information may need to be adjusted, corrected, or it may be outright wrong.

There is NO SHAME in being wrong.  The only people who are never wrong are the people who do nothing.  Thomas Edison’s lab was filled with many “failures,” all of which were learning exercises that led to success.

In fact, the bigger shame is in not publishing and keeping your data and discoveries to yourself.  If you wait until you know “exactly,” that will never happen and you’ll never publish anything.  Even if the information turns out to be incorrect, it’s still a foundation for future research.

If another academic disagrees with a paper, they don’t publicly berate their colleague as “incompetent”, suggest they are suffering from “ascertainment bias,” state that the global “we” don’t approve of their research methods, nor do they say their research is a folly – at least not in a public forum.  If they have something to say, they are expected to do so with professional decorum and write a rebutting paper to share their own research and information as to why they disagree and how the data proves their point.

As has been proven, sometimes papers, especially early papers, are simply incorrect.

Often, as in Dr. Behar’s case, the original researcher, due to their high level of interest in the topic at hand makes additional discoveries that refutes or adjusts their earlier work.

Again, open research is encouraged.

I am hopeful that the genetic genealogy community can act within the same professional decorum standards.  Participating in character assassination of those engaging in research discourages open sharing, discourages research and assuredly discourages new people from participating.  No one wants to become a target.

In a professional setting, people disagree with ideas but remain friends.  Disagreements aren’t personal attacks.  There are no DNA police.

I am very encouraged not only by Dr. Behar’s work, but by his professional demeanor as well.  Doron said that we all hold important information relevant to these discoveries.  He’s right, and the way to free that information is to both test and continue to question,  research and publish.

Miguel Vilar – Genographic 2015: New Markers, New Geno Kit and Accessing the Data Base

2015 ftdna vilar

Dr. Miguel Vilar is the Science  Manager for National Geographic’s Genographic project as well as a molecular anthropologist.  He attended the Family Tree DNA conference in 2013 and we were very pleased to have him back this year to update us on the Genographic Project, now celebrating its 10th anniversary.  It has been an incredibly exciting decade.

Ten years ago, the Family Tree DNA Conference was at the National Geographic headquarters in Washington DC to celebrate the FTDNA/Nat Geo collaboration.

2015 ftdna 2005 nat geo

The Genographic Project has been very successful with over 670,000 public participants.

2015 ftdna vilar 10 years

In the beginning, the Genographic test was either a basic mtDNA test for females, or a 12 markers Y test for males.  The Geno 2.0 test changed dramatically, and the new Geno 2.0 Next Generation test offers even more.

However, the Geno 2.0 Next Generation test isn’t either the 2.0 test nor next generation sequencing.  So don’t get confused by the name.

2015 ftdna vilar compare

For someone who has already taken all of these tests, there is no incentive to test again, but for a new person who wants a base mtDNA haplogroup, a Y haplogroup, ethnicity, autosomal results and to transfer into Family Tree DNA for autosomal matching – the $149 price tag is certainly a good value and it’s a great starting point.  The unlock price at FTDNA will be $39, same as for Ancestry or the 23andMe V3 chip.

After transferring to Family Tree DNA, males can test the Y STR markers and they will already have over 17,000 haplogroup defining SNPs tested.  Bennett said the SNPs known about a year ago when the cutoff for the new chip was made were included.

The new Geno 2.0 NG chip is an Illumina chip, customized but compatible with the chip used by Family Tree DNA.

National Geographic wants to expand their research partnerships as well to include qualified genetic genealogists, citizen scientists and those in other academic fields.

2015 ftdna vilar data base

Nat Geo has established an application process.  If you are interested, contact Dr. Vilar at his e-mail above.

Additionally, National Geographic has 11 new grantees doing fieldwork now in Chilean Patagonia.

2015 ftdna vilar field work

An exciting aspect of this work is that 48 ancient DNA samples are being included and compared to 70 modern samples.

2015 ftdna vilar ancient

National Geographic continues to publish research papers and have published 55 to date, with 5 more being near publication which is expected yet this year.  I will publish a list shortly on this blog.

2015 ftdna vilar papers

One of the questions that has been concerning genetic genealogists is how the recent sale of part of the National Geographic assets will affect the Genographhic project.

I asked Miguel privately, and he said that the research arm stays under the nonprofit National Geographic, but that the kit and website have both fallen in the group of products that have been sold to 21st Century Fox.  Miguel said that he really didn’t have any answers at this time, but that the research continues and that the details are being worked out.

For those who don’t know, Spencer Wells stepped down as the director of the Genographic Project several months ago, but remains involved in a consulting capacity.

Michael Davila, Director of Product Marketing

Bennett introduced Michael Davila, the new Director of Product Marketing.  Michael isn’t new to Family Tree DNA.  He worked there for several years, from 2004-2011 when he left to work for a few years in the oil and gas industry, returning to FTDNA a few months ago in his new capacity.

2015 ftdna davila

Michael had one very short message.  He knows there are problems and he is committed to getting them fixed and to providing tools for customers.  The message, “Tools, tools, tools.”

Short, sweet and right to business.

I had a chance to meet with Michael outside of the conference room and I want to say that I’m very encouraged by Michael’s direct approach.  He is insightful, understands the situation at hand and knows what needs to be done.

After Michael’s brief commentary, a general Q and A session followed.  One of the questions was for Michael, and I just happened to catch this candid of Michael and Bennett!  Not sure what Michael was saying, but it looks like it gave Bennett a migraine!

2015 ftdna q and a

Actually, I think Bennett is concentrating on deciphering a question submitted by an attendee.


Saturday evening is traditionally the ISOGG party, but it’s not like a party you might generally think of.  There is a lot of tutoring and collaborating that goes on.  Friendships are made and renewed.  Just being together is great.  I mean, it’s not like we can have a discussion about SNP mutations rates at the dinner table at home.

2015 ftdna collaboration

You can see two different groups discussing aspects of genetic genealogy here.

At the party and also at Sunday’s sessions, lot of people were wearing the cool t-shirts gifted to participants by Family Tree DNA.

2015 ftdna tshirt

2015 ftdna tshirt 2

When we got back to our rooms, we discovered that even the hotel staff was in the spirit!!

2015 ftdna hotel

ISOGG Meeting

Sunday morning is traditionally the ISOGG meeting.  Not everyone attends, unfortunately, because not everyone is a member.  Everyone is welcome, and since membership is free, it’s easy to join at

2015 ftdna borges

Katherine Borges was the original founder of ISOGG and still functions as the Director.  ISOGG is celebrating its 10th anniversary this year, after being founded after the first genetic genealogy conference in Houston in 2004.

2015 ftdna 2004

Katherine found a few photos of that first conference which was only one day and was held in a facility later destroyed by hurricane Ike, I believe.  You can see more 2004 photos here and photos from other years here.

2015 ftdna 2004 max

I don’t think Max (above) and Bennett had any idea what kind of a legacy they were creating with that first conference.  History was being made.

2015 ftdna 2004 bennett

Another function of ISOGG was the creation and maintenance of the Y SNP Tree.  The tree was begun 9 years ago and has been organized and maintained by Alice Fairhurst this entire time.

2015 ftdna tree

In 2012, the Y tree had 800+ SNPs, but beginning with the introduction of the Big Y test, the SNP tsunami began.  Today, there are over 15,000 SNPs on the tree, all entered by hand by Alice.  Fortunately, each haplogroup has a coordinator, but still the increase in SNPs and the magnitude of the task at hand has been overwhelming.

Quality has to be maintained, because the tree is regularly referenced by academics as well as by genetic genealogists.  Today, any SNP found in a Big Y type of next generation scan test must but be confirmed by Sanger sequencing.  I know this is frustrating to some, but given the uncertainty of scanned SNPs, it’s also essential to maintaining the tree’s integrity.

Alice recently retired from heading the ISOGG Tree project and was presented with an award for her nine years of service to the genetic genealogy community by Katherine Borges on behalf of ISOGG.

2015 ftdna fairhurst

In Alice’s comments, she said that “We have all driven a new industry.”  Alice played a central and pivotal part.

Alice received a richly deserved standing ovation.

2015 ftdna standing ovation

But we weren’t the only ones thanking Alice.  Max and Bennett presented Alice with a certificate of appreciation for her years of service as well.

2015 ftdna fairhurst 2

I was really pleased to see this.  Not only is Alice extremely deserving of the recognition, but volunteers are too often unthanked and under-appreciated.

Panel Discussion:  Protecting Ourselves: AHGS and Genetic Genealogy Standards

Have you ever been invited to a party, had to decline with genuine regrets, then later, been very glad that you didn’t attend.  This describes the AHGS meetings for me.  In 2013, I was invited to the first conference and couldn’t attend, but given what transpired and the difficult environment at the conferences, I’m grateful in retrospect.

Those who did attend, and those who subsequently developed the Genetic Genealogy Standards document formed a panel, moderated by Bennett Greenspan, to discuss those meetings and standards.

2015 ftdna panel

Panel members left to right, Katherine Borges, Steven Perkins, Dr. Tim Janzen, Jennifer Zinck and Debbie Parker Wayne.

In a nutshell, genetic genealogy had come to the attention of the American Human Genetics Society and not in a positive way.  They didn’t understand what we are doing, and they became somewhat polarized on the idea of “harms.”  What harms, you ask? Well, so did we.  Apparently the harms they are concerned about are things like Y DNA testing revealing non-parental events.

The good news is that after this years meeting, it appears that the word “harms” has been removed and as a proactive measure, the genetic genealogy community created its own standards and guidelines.

You can read the resulting standards created by genetic genealogists here.

Brad Larkin Presents Genetic Genealogist of the Year Award

Brad Larkin, on behalf of the Surname DNA Journal, presented the second annual Genetic Genealogist of the Year Award to Maurice Gleeson.

2015 ftdna larkin

The Surname DNA Journal would be a wonderful resource to publish many of these presentations – hint, hint to the presenters!!!

2015 ftdna gleeson

Maurice has organized Genetic Genealogy Ireland in Dublin since 2012, in addition to presenting widely.  He also has a very successful series of genetic genealogy videos on YouTube which I highly recommend.

2015 ftdna award

Maurice is a man of many talents – a psychiatrist and pharmaceutical physician, a professional actor and of course, a genetic genealogist.  He has another talent as well – he can make absolutely anything interesting.  If you ever hear that Maurice is giving a lecture on dust – by all means attend! It will be the highlight of your week, I guarantee.

Maurice, congratulations on your well-deserved honor and Brad, thank you for recognizing one of our colleagues.

Maurice Gleeson – Combining SNPs, STRs and Genealogy to Build a Surname Origins Tree

2015 ftdna gleeson open

Maurice, like many of us, wants to be able to use STRs and SNPs in combination with genealogy records to construct accurate lineage trees.  In addition, when genealogy records connecting people to their common ancestor are missing, we’d still like to be able to construct at least a hypothetical or genetically accurate tree.

2015 ftdna gleeson build tree

During this process, Maurice encountered several challenges, including.

  • Parallel mutations
  • Back mutations
  • Markers behaving unusually
  • Multi-copy markers
  • Unstable markers
  • Lack of mutation rate for some markers
  • Lack of standardized mutation rate for SNPs
  • Difficulty determining if a SNP is present or absent
  • Convergence issues
  • False negatives
  • False positives
  • Unregulated naming
  • Project members testing at different levels

Maurice did, however, provide us with the secret to success.

2015 ftdna gleeson essential technology

He began with hot cocoa and chocolate, but he said by the end of the project, he had an empty whiskey bottle and was taking anxiety medication:)

Maurice began by drawing a typical pedigree chart, based upon the project results, reflecting what he believed would be where the mutations would have occurred based on line marker mutations.

2015 ftdna gleeson mutations

Then, with the assistance of Ralph Taylor, he drew Fluxus diagrams of the likely joining patterns of each set of possible outcomes.  The outcomes included and then omitted various markers experimentally for various reasons related to the challenge list above.

2015 ftdna gleeson fluxus

Maurice shared lots of slides with us reflecting several different mutation sequence possibilities.  I have omitted them, in part because I can’t explain why Maurice did what he did.  I understood it at the time, but without the slides to take notes on, I don’t think I could reconvey it correctly.  I would suggest that you obtain his slides from this link and view those in conjunction with Jennifer Zinck’s notes from his lecture.

In the end, Maurice did reach a “most probable” fit for both STRs and SNPs, although with some caveats, some of which were caused by participants who had only tested at 37 markers.

Maurice closed with lessons learned and future opportunities.

2015 ftdna gleeson lessons

2015 ftdna gleeson lessons 2

2015 ftdna gleeson lessons 3

2015 ftdna gleeson lessons 4

Maurice, this would make a fantastic YouTube video!!  It was a wonderful lecture.

James Irvine – Surname Projects, Some Fresh Ideas

2015 ftdna irvine projects

James has been working with the Scots-Irish Irvine project for the past ten years.

2015 ftdna irvine

James Irvine and Maurice Gleeson are both trying to achieve many of the same goals, but are using somewhat different methods.

James creates his own spreadsheets for his project members which include not only STR markers, but lineage defining SNPs as well.  Furthermore, James utilizes weighting for each STR marker based on its mutation rate, something the main project spreadsheet does not take into consideration in the step-wise mutations.  However, James feels the TIP calculations, which do take mutation rate into consideration are really quite accurate, based on his reconstructed pedigrees.

2015 ftdna irvine tip

Unfortunately, it’s at this point that my camera battery died completely, so I don’t have any further photos of his presentation, but would encourage you to download his slides for yourself at this link.

James discussed the varying SNPs reported by different entities and compares the results.  The Big Y from Family Tree DNA, the results as analyzed by the appropriate project administrator(s), by a third party entity and then what he found himself.  The various analysis and what they considered to be valid SNPs varied significantly.

Which one is accurate, and why and how does this in reality affect what we can surmise of the genealogy and constructing family trees?  We just don’t know yet – but we are working with what we have.

One thing he mentioned is that the 495 STRs extracted by third parties from Family Tree DNA Big Y files are not necessarily reliable – which of course calls into question the reliability of any STR extracted from a next generation sequenced file.  This also confirms why Sanger sequencing is required for SNPs to be added to the ISOGG tree.

Break Out Sessions

Sunday’s breakout sessions once again included sessions that would hopefully appeal to a wide range of audiences.

Katherine Borges – Nulls: The Value of Nothing (Y-DNA)
Matt Dexter – Surveying Ancestry Using Autosomal DNA Results
Jim Brewster – Getting Started with GAP

I attended Matt’s session, capturing only one photo with my phone.  My apologies.

Matt discussed the foundation principles of autosomal testing and analysis, and how adoptees use this technology to find their families.

Roberta Estes – Y-DNA to Autosomal Case Study – Kicking It Up a Notch

2015 ftdna estes

(Thank you Jennifer Zinck for permission to use this photo.)

Lots of folks have sleepy Y DNA projects and wonder what else can be discovered utilizing these core projects.  I did too, so I decided to try and see what happened if I expanded the Crumley Y project to include autosomal.

We began with 4 men who were Y DNA descendants of James Crumley born in 1712.  These men descended from two of James’ sons, John and William.

We began our transition from Y to Y+Autosomal by upgrading all 4 men to the Family Finder test.  We then set about recruiting additional members including those who are not male and do not carry the Crumley surname today.

2015 ftdna estes recruiting

The response was quite surprising and we quickly had 50 members, about 30 of whom descended from those same two sons.  However, the descendants of the sons are today 7 generations distant, so 6th cousins, at the closest generation.  The furthest distant from each other were 8th cousins once removed.

This begged several questions.

2015 ftdna estes curious

While the prediction models suggested that they wouldn’t match, they did.

2015 ftdna estes james

In essence, we began to reconstruct the genome of James Crumley through his descendants by creating a spreadsheet showing how each Crumley descendant matched each other Crumley descendant.  We utilized the same tools that we use for our own autosomal comparisons, some in a slightly different way.

2015 ftdna estes tools

This shows an example of three match groups of James’s descendants where the blue son, John’s descendants, are matching to the green son, William’s descendants on portions of chromosome 1.

2015 ftdna estes match list

Because I’m a visual person, I wanted to reconstruct James and Catherine’s genome on their chromosomes, so I utilized Kitty Cooper’s tools in ways they really weren’t quite designed for.  Normally they are used to place your ancestral segment on your own chromosomes.  Here, I used them to map James descendants matching DNA onto “James” chromosomes.

2015 ftdna estes james recreate2

We actually accomplished several things and made multiple discoveries, many of which were entirely unexpected.  I showed what we had discovered in the Y only project contrasted to the Y+autosomal project.

2015 ftdna estes accomplishments

Last, I discussed how to transition a project from Y only to Y+autosomal.

2015 ftdna estes transition

My slides are available at this link, and I will be writing a series of articles from this research to be published in the upcoming weeks on my blog.

Dr. Connie Bormans, Laboratory Director, Tom Richard, Customer Support Manager and Mike Alexander, Director of Engineering

All three of these individuals have extremely critical positions at Family Tree DNA, all with very specific challenges.

Connie discussed sequencing technology and the differences between the different types of technology utilized for different tests.

Tom talked about several things he has done in less than a year at Family Tree DNA to improve customer service – and it has improved greatly.  I spoke with him offline as well, and he has lots of plans going forward.

It’s wonderful to see such capable and motivated management team members.

2015 ftdna richard

Me with Tom Richard.  I love meeting the staff and seeing them each year.  It makes communicating with someone you know the rest of the year much easier.

Mike Alexander comes from NASA and his motto is the famous Gene Kranz statement, “Failure is not an option.”  For those who don’t know, Kranz was the flight director credited with saving the Apollo 13 crew.

Little did Mike know, a few years ago, I sat in that seat in the Johnson Space Center and I have a t-shirt with that very saying.

2015 ftdna nasa

Needless to say, I am greatly encouraged by Mike’s NASA experience and believe it will serve him, and Family Tree DNA, very well.  Because, well, failure is not an option.

The Sale

I don’t know if Max and Bennett ever meant for this to happen, but it’s become a tradition that they announce a sale of some type during or at the end of the conference.  They closed this conference with the announcement that the Holiday Sale was beginning and would continue until the end of the year.  You can read about the sale and exchange coupons here.

Thank you Max and Bennett!

In Summary

This was an absolutely wonderful conference.  I so enjoyed renewing old friendships and meeting new people.  I’m very glad to see younger people and new admins interested and involved as well, because they are the next generation that will push what we’ve viewed as the frontier into the mainstream.

One day, we really will be constructing and reconstructing ancestors.  We may be able to see their faces, know the color of their eyes and perhaps some of their traits.  In another five years, we’ll be doing things we can’t even imagine today, and we’ll be pushing yet another line in the ever-expanding frontier of genetic genealogy.

Like I said when I closed my session, it takes a village.  A village of participants to test, a village of administrators organizing and analyzing results, and pushing the proverbial research envelope.  And it requires advanced tools and the supportive and incubational environment provided by Family Tree DNA.  Without any of those things, we would fail.  Thankfully, we won’t.

Maurice Gleeson perhaps said it best in his closing, “Max, Bennett, without you, there is no us.”

We truly are a partnership!

2015 ftdna me bennett

Family Tree DNA 2015 Holiday Sale Begins NOW

Family Tree DNA’s annual holiday sale begins NOW and has two parts.

First, the prices are reduced for almost all tests and upgrades – for new and existing customers, both.

Second, existing customers whose e-mail is in the data base will receive a new coupon every Monday and the mystery discount can be applied IN ADDITION to the sale price upon checkout.

Please note, if you don’t receive the e-mail on Mondays, it may be caught in a spam filter someplace or the internet troll grabbed it.  Just sign on to your account and the coupon is displayed there as well.

2015 Mystery Gift

Like last year, you can list your coupon discounts available, if you’re not going to use them, for others to use in the comments of each week’s blog article about the sale and sharing.  You can also request something specific.  I’ll start.

My coupon this week is R7DU2DHF and it’s for $5 off of any mtDNA test – so if you’ve been wanting to test or upgrade, now might be a good time.  Each coupon can only be used once (so first come, first serve of shared codes) and expires the following Monday when the next coupon is issued.

Click here to order or upgrade tests, see prices, or redeem coupons.

Read below for the details.2015 FTDNA Holiday Sale

Dear Group Administrators,

We’re excited to announce the launch of our 2015 Holiday sale! It will starts today  and ends on December 31st @ 11:59PM Central Time.

You’ll find a full list of the sale prices on the FTDNA website. Similar to last year, we’re adding a treat to this year’s great deals – our Mystery Reward discounts! The Mystery Reward will be a randomized discount (up to $75 off) that can be applied on top of the already reduced Holiday Sale prices. You’ll get a new Mystery Reward every week as well as after making a purchase. You can use the discounts or share them with friends!

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Johann Georg Dorfler (1732-1790), Suicide, 52 Ancestors #98

If you’re cringing already, suicide is an ugly word.

It makes us uncomfortable.

And it’s shocking when you find a record that says your ancestor died by suicide – and describes how.

And of course, the next question is “why.”

I spent a great deal of time several years ago working with a professional translator, Elke, a woman skilled in both high German, German script and Latin.  The earliest German records utilized all three of these show-stopping methodologies and languages – at least show-stopping if you’re not familiar with all three.  People who are familiar with all three are rare as hen’s teeth, let me tell you.

So when I received this translated church record about Johann George Dorfler, I was utterly dumbstruck.

“He has cut his throat all the way through and died, age 58, and was buried quietly.”

I didn’t understand what all of this meant – other than the “cut his throat” part.  I was pretty clear on that.

But, “all the way through”?  How did he even manage that?

And what does “buried quietly” mean?

Elke says this means that he was likely buried without a church service, or with a minimal church service as suicide was looked upon as a sin that could keep you out of Heaven and was highly frowned up on in German society.

So his family never really got closure on his death in the normal way.  Not only was he deprived, but so were they.

What happened?

Johann Georg was born on October 31, 1732 in Wirbenz, Germany to Johannes Dorfler and Anna Gerlin.  He died January 25, 1790 in Speichersdorf.  Both of his parents predeceased him – so neither of them had to suffer from his suicide.

Johann Georg was married on January 23, 1755 in Wirbenz (shown below) to Anna Magdalena Buntzman, the daughter of Johannes Buntzman.

wirbenz church

This view of the church across the farmlands surrounding the village would have been quite familiar to Johann Georg Dorfler.

wirbenz church distance

His death record says that Johann Georg was a weaver and quartermaster in Speichersdorf.  Elsewhere he is noted as a farmer.

A quartermaster is typically a non-commissioned officer in charge of supplies.  Johann Georg seems to have been a farmer that did well for himself in the local community.

Given the records in both Wirbenz (at right, below) and Speichersdorf (at left below), his farm may have been one of these well-groomed fields between the two locations.


When possible, I reconstruct families, but I was unable to do that with his children.  I’m hopeful that someday perhaps the records will be available, translated, online.

My ancestor, their daughter, Anna Barbara Dorfler was born in Wirbenz in 1762.

Wirbenz farmland

Photo by Milchi

Wirbenz is a village beside Speichersdorf, less than a mile distant, so the family didn’t move far, likely just attended a different church.  What a beautiful area.

Speichersdorf church

Photo by Steini83

This may be the church in Speichersdorf where Johann Georg’s service, such as it was, was held.

Is he buried in the cemetery here?  If not, where did they bury him?

In the Catholic faith, one who dies by suicide cannot be buried in consecrated church ground, but the Protestants weren’t so strict.

The Protestant faith sprung from the Catholic faith, and even though they are different, some cultural biases and superstitions don’t die easily – and suicide along with its stigma seems to be one of those.

I have to wonder what caused a 58 year old man to kill himself and in such a gruesome manner.

How did he even have the strength to carry through with this act?  He must have been incredibly resolved.

Based on his occupation as Quartermaster, I first checked German history to see if anything striking happened in Bavaria in 1790.  The only thing I found was this:

“1790 brought a fundamental reform of the Bavarian army. All field troops received an identically-cut uniform, including a leather helmet with a horsehair plume.”

Nothing about losses or sieges or anything that might upset someone to the point of suicide.  Johann Georg didn’t seem to have all of his eggs in one basket either with multiple sources of income – a failure in any one would not devastate the family.

His daughter, my ancestor was then 28 years old and had an 18 month old baby when her father died.

Johann Georg’s wife outlived him by 8 years, dying of “weakness,” so his death had nothing to do with her death.

Most suicides today are related to one of, or a combination of, several things:

  • Depression
  • Alcohol or Drug Addiction
  • Terminal Diagnosis
  • Accidental
  • Extremely Traumatic Event

We can rule out two or three of those.

It clearly wasn’t accidental.  You don’t cut your throat “all the way through” by accident.

In 1790, there were not cancer diagnoses, so it was likely not something of that nature.

To the best of my knowledge, recreational drugs weren’t an issue in 1790 in Germany, although alcohol consumption has been an issue ever since alcohol has existed.

So we’re left with depression, a traumatic event or perhaps alcohol addiction – or some combination thereof perhaps.

Another possibility is that he did something terrible and couldn’t live with it – but my experience has been that people who do terrible things generally don’t have enough conscience to feel remorse at that level, or even at all – so that is probably ruled out too.  Generally, when kidnappers or mass murderers, for example, take their own lives, it’s in an attempt to evade the justice coming their way – not because of remorse.

One last possibility is that something so terrible happened to him, or his family, that he couldn’t stand it.  That something would have to be pretty profound – like maybe the accidental deaths of several of his children.  I know of an instance like this in another family line.

We will never know.  It’s not like there are court notes or old newspapers we can peruse.  Nothing more in the church notes.  No hints of any kind.  Just that one shocking sentence.

My own close encounters with suicidal family members indicate that often, those with depression don’t actively want to kill themselves – they simply want the pain to stop and that is the only avenue they see as possible.  In other words, the only way out.  Today, we have medications, counseling and support groups to help people.  Then, they didn’t.

It saddens me terribly to know the depths of despair this man must have felt to do something so incredibly drastic.  Worse yet, to remove yourself from your family in that time and place also meant that they would have no way to make a living.  He had to know that, yet he took his life anyway.  I simply cannot comprehend this even though I understand it logically.

And sometimes, sometimes the results were even worse.  In Europe during this timeframe, suicide was thought of as the result of sin.  In order to discourage people contemplating sin, the body of the person who took their own life was desecrated in various ways and their entire estate was confiscated.  So not only was the family traumatized by the death, but again by the physical desecration of their family member and the assured financial ruin that followed.  This was no trivial matter and resounded and rippled downstream generationally.

We know, in his case, that his body was buried two days later which tells us it was not desecrated.  A review of the book, “From Sin to Insanity: A History of Suicide in Early Modern Europe” states that by the end of the 1700s, suicide was looked upon socially more like a medical or lunacy issue.  In other words, you weren’t responsible for sinning if you were crazy.  Still, the laws about estate confiscation weren’t rescinded until significantly later.  Did they actually confiscate his estate?  We’ll never know that either.

Another downstream aspect of suicide was financial.  Not only did it ruin the immediate family, it stigmatized the family and cast them into the lower social classes.  In the servant class, if you could not afford to marry, you often wound up as an unmarried servant with illegitimate children who were also stigmatized.  This situation was very difficult, if not impossible, to work yourself out of, and this is the situation the granddaughter of Johann Georg Dorfler found herself cast into.

I wonder if the genesis of this situation began with the financial and social ramifications of the suicide of Johann Georg. Some 60 years and a generation later, that illegitimate child would immigrate to America with his “wife to be” and their illegitimate children and would marry immediately upon arrival – leaving that stigma behind forever.  No one knew here – at least not until I dug it up 150 years later.

Today, there is no judgement, of either Johann Georg or his illegitimate descendants.  Only profound sorrow for Johann Georg and his family, and respect for the descendants who had the courage to risk everything and leave for unknown but more promising lands.

So what happened to the family home, Anna Magdalena and their children?

Johann Georg’s wife, Anna Magdalena, was born in 1732, so she likely had children until she was 42 or 43, so until about 1775.  In 1790, when Johann Georg died, she was only 58 years old.  They would have had a child or two left at home, plus Anna Magdalena herself who needed to be provided for.  If his estate was confiscated, there would have been no opportunity for Anna Magdalena and the children to eek out a living on the same land.

Suicide affects so many people, far more than just the person who dies.  I don’t think families ever really recover from suicides – in a different way than a regular death.  Partly from the violence and terrible nature of the death, partly from the stigma, partly from unresolved and undeserved survivor guilt and partly from the trauma. In 1790 in Germany, add to that the financial aspect of estate confiscation.

Someone has to find the body, someone has to tell the rest of the family, someone has to clean up the mess, someone has to offer what meager comfort they can, someone has to prepare the body for burial.  It’s a horrible and in this case, gruesome, event for all concerned.  And assuredly, it made everyone uncomfortable, at best.  Everyone probably crossed the street when they saw family members approaching for lack of knowing what to say.

I mean, in 1790s Germany – what would you say?  “Gosh, I’m sorry your husband killed himself and your family is starving now?  By the way, how are you doing?  Will we see you Sunday in church?  Oh, you have no clothes to wear???”  Not a conversation anyone wants to have, so I’m sure avoidance became the order of the day.

And sadly, it’s his suicide that defines him.  And if he felt he had a good reason, that reason is lost to us in the shock and magnitude of the suicide itself.  The church record doesn’t provide that information – only the dry facts – and some small comfort – to me at least – that his body was buried without making a spectacle or example of him.  Thank Heavens the family was spared that.  I’m not going to discuss what was done previously to the bodies of suicide victims, but “From Sin to Insanity” tells you.

I surely hope the religions are wrong that believe those who take their own life are condemned to eternal hell.  He obviously was miserable in his lifetime, for whatever reason, so I hope and pray he can at least rest in peace in death.  And I pray his family didn’t suffer additionally believing that he was roasting in Hell on top of everything else.

And I hope, I really hope, that he did not pass this trait to his offspring.  Let’s just say this is not the only brush with suicide in my family – this is just the oldest that I’ve found.  We know that the propensity for depression is from 40-50% heritable, and possibly higher for severe depression.  I’d say depression fueled suicide falls into that category.

On the DNA side of things, I have not been able to find anyone who descends from this Dorfler family via Y DNA – meaning patrilineally.  The Y chromosome follows the surname in males, so male Dorflers who descend from Johann Georg will carry his Y chromosome.

At Ysearch, there is one Dorfler, but their information indicates that particular male Dorfler’s ancestor’s mother never married and he carries her surname and unknown Y DNA.  If you are a Dorfler male who descends from Johann Georg Dorfler’s family line and you carry the surname, I have a Y DNA testing scholarship for you.  Johann George’s Y chromosome will tell us where his paternal line originated.

DNAeXplained Archives – Educational Opportunities

Today, another grouping of articles from the DNAeXplained archives.  This time, we’ll be looking at the Educational Opportunities group.  The various categories are:

  • Historical or Obsolete – these are items that were interesting at the time by aren’t really relevant today – except in a historical context. An example would be the announcement of the Genographic 2 project in July of 2012. You may wonder why I didn’t delete these. Looking back, these are somewhat like a genetic genealogy journal.
  • General Information – these are generally articles about DNA and genealogy. They don’t presume that you’re actually working with the results.
  • Basic Education – this may be basic genealogy or basic DNA fundamentals. These articles provide a foundation for working with your results. Think of it as pre-bootcamp.
  • Introductory DNA – these articles do presume you are working with your results. Bootcamp begins here.
  • Intermediate DNA – these are a little more difficult and you’ll probably need the basics and introductory understanding to be able to work at this level.
  • Advanced DNA – very few articles are advanced. In fact, I try very hard to avoid this, when possible. Mostly, these have to do with advanced autosomal techniques and research.
  • Educational – educational opportunities such as classes, books and videos.
  • Entertainment – just for fun, like the Who Do You Think You Are series, some of these have no DNA content.
  • Examples – these are examples of using genealogy and DNA together seamlessly. My 52 Ancestors stories fall into this category. Think of these as story problems that include the answers!
  • Project Administration – articles written for project administrators at Family Tree DNA. Project administrators, of course, will be interested in all of the rest. 

In the past we’ve covered Historical, General Information, Basic Education, Introductory, Intermediate and Advanced DNA. Today, let’s look at Educational.

Title Date Link
It’s Dick Hill’s Fault 9-25-2012
NGS Series on DNA Basics – All 4 Parts 8-10-2013
Chromosome Parody Video 12-31-2013
Genetic Genealogy: The Basics and Beyond by Emily Aulicino 1-24-2014
African Diaspora Conference Videos Available 2-2-2014
Educational Videos from International Genetic Genealogy Conference Now Available 9-26-2014
Guide to DNA Testing by Richard Hill 10-17-2014
Genetic Genealogy Ireland 2014 Presentations 11-12-2014
Finally – A “How To” Class for Working With Autosomal DNA Results 2-10-2015
NextGen Genealogy: The DNA Connection by David Dowell 2-14-2015
Getting Started in Genetic Genealogy – Intro by Diahan Southard 2-18-2015
DNA Lectures YouTube Channel 4-28-2015
DNAeXplain Archives – Historical or Obsolete Articles 6-13-2014 dnaexplain-archives-historical-or-obsolete-articles
DNAeXplain Archives General Information Articles 7-1-2015
First Peoples Series on PBS 7-20-2015