Daughters of Princess Mary Kittamaquund

Daughters book cover

Recently Shawn and Lois Potter utilized the Minority Admixture Mapping technique I developed, utilized and described in the series “The Autosomal Me” to establish that the mother of John Red Bank Payne was Native American.  Shawn and Lois were so encouraged after that positive experience that they set forth to document another Native ancestor.

They produced this report as a beautiful and fully sourced booklet which they have very graciously given permission to reproduce in part here.

Daughters of Princess Mary Kittamaquund

Every student of American history has heard about Pocahontas—the young Indian princess who struggled to establish peace between the Powhatan Indians and Virginia colonists, married Englishman John Rolfe, and left descendants through her son Thomas Rolfe.  But, few have heard about Mary Kittamaquund—another young Indian princess who likewise promoted peace between the Piscataway Indians and Maryland colonists, married Englishman Giles Brent, and, as revealed by archival research combined with DNA analysis, left descendants through her daughters.  Both women lived heroic yet brief lives; and both should be remembered for their devotion to their people in an age of momentous danger and change.  The following sketch introduces Princess Mary Kittamaquund and her daughters.

Mary Kittamaquund, daughter of the Tayac (Paramount Chief) of the Piscataway Indians, was born in Maryland probably about 1631.[i]  Her father ruled over as many as 7,000 people between the Potomac and Patuxent Rivers.[ii]  Following about six months of dialogue and study with Jesuit Missionary Father Andrew White, Mary’s father converted to Christianity and was baptized on July 5, 1640.[iii]  Soon after February 15, 1640/1, Mary too was baptized, and her father sent her to the English settlement called St Mary’s City, near the mouth of the Potomac River, to be educated by Governor Leonard Calvert and his sister-in-law, Margaret Brent.[iv]

Mary married Giles Brent, brother of Margaret Brent, before January 9, 1644/5.[v]  A band of Parliamentarians led by Richard Ingle and William Claiborne attacked St Mary’s City on February 14, 1644/5, and carried Giles Brent, Father Andrew White, and others in chains to England.  Upon his arrival in London, Giles brought suit against his captors and returned to Maryland before June 19, 1647.[vi]  Mary and Giles moved to present day Aquia, Stafford County, Virginia, after November 8, 1648, and before August 20, 1651.[vii]  Mary died probably after April 18, 1654, and before September 4, 1655.[viii]  Giles Brent died in Middlesex County, Virginia, on September 2, 1679.[ix]

Scholars disagree about the number of children born to Mary Kittamaquund and Giles Brent.  Some list only three children named in the 1663 and 1671 wills of sister and brother Margaret and Giles Brent.[x]  Margaret appointed her brother Giles “and his children Giles Brent, Mary Brent, and Richard Brent” executors of her estate.[xi]  Giles left bequests to his son Giles Brent and daughter Mary Fitzherbert.[xii]  Other historians, such as Dr. Lois Green Carr, Maryland Historian at the Maryland State Archives, on the basis of information gleaned from provincial court records, probate records, and quitrent rolls, identify six children of Mary and Giles, including Katherine Brent (who married Richard Marsham), Giles Brent (who married his cousin Mary Brent), Mary Brent (who married John Fitzherbert), Richard Brent (who died after December 26, 1663), Henry Brent (who died young), and Margaret Brent (who also died young).[xiii]

Some researchers further believe daughter Mary Brent divorced John Fitzherbert before April 26, 1672, and married second Charles Beaven.  This belief is supported by (1) a reference to the divorce of Mary and John in a letter of this date from Charles Calvert to his father, (2) a statement regarding “my brother iñ Richard Marsham” in the June 20, 1698 will of Charles Beaven, (3) the appointment of “my well beloved Richard Marsham” by Mary Beaven to be executor of her 1712 will, and (4) other circumstances demonstrating kinship ties between these families.[xiv]  Still others refuse to accept this relationship without further evidence, lamenting the loss of contemporary records which has “confused researchers for a hundred years.”[xv]

Recent DNA analysis, however, reveals six descendants of Katherine and Richard Marsham and three descendants of Mary and Charles Beaven, representing six separate lineages, inherited at least sixteen matching segments of Native American DNA on chromosomes 2, 3, 4, 5, 6, 7, 8, 13, 15, 16, 20, and 22.  Figure 1 shows the relationships between these descendants; and Figures 2-17 illustrate the sixteen matching Native American chromosomal segments (see Figures 18-33 for additional images of these segments produced by four independent admixture tools; and also see https://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/ for information about Minority Admixture Mapping).  These matching chromosomal segments point to a common Native American ancestor, who, because other possibilities can be eliminated, must have been the mother of Katherine and Mary.[xvi]  Considering this DNA evidence in light of contemporary records, it now seems certain Mary Kittamaquund and Giles Brent were the parents of Katherine, wife of Richard Marsham, and Mary, wife first of John Fitzherbert and second of Charles Beaven.

Genealogical Summary

Katherine Brent was born probably in Aquia, Stafford County, Virginia, say about 1650.  She may have served an unknown period of indentured service to Thomas Brooke, perhaps following the death of her mother, before she married Richard Marsham perhaps before December 26, 1663, and certainly before March 11, 1664/5.[xvii]  Richard immigrated to Maryland in 1658, where he served three-years of indentured service to John Horne for his transatlantic voyage.[xviii]  Katherine died in Calvert County, Maryland, before October 26, 1670.[xix]  Richard married second Anne Calvert, widow first of Baker Brooke Sr., and second of Henry Brent, after April 30, 1695, and before February, 1696.[xx]  Richard died in Prince George’s County, Maryland, between April 14 and 22, 1713.[xxi]  Katherine and Richard were the parents of the following children:

1. Sarah Marsham was born in Calvert County, Maryland, say about 1667, married first Basil Waring say about 1685, married second William Barton after December 29, 1688, married third James Haddock after April 19, 1703, and died in Charles County, Maryland, after January 8, 1733.[xxii]

2.  Katherine Marsham was born in Calvert County, Maryland, say about 1669, married first her future step-brother Baker Brooke Jr. say about 1689, married second Samuel Queen after May 27, 1698, and died in St Mary’s County after March 18, 1712, and before April 14, 1713.[xxiii]

Mary Brent was born probably in Aquia, Stafford County, Virginia, say about 1654.[xxiv]  She married first John Fitzherbert before 1671.[xxv]  Mary and John divorced before April 26, 1672.[xxvi]  Mary married second Charles Beaven say about 1674.  Charles died in Prince George’s County, Maryland, between June 20, 1698, and June 21, 1699.[xxvii]  Mary died in Prince George’s County between April 28, 1712, and June 13, 1713.[xxviii]  Mary and Charles were the parents of the following children:

1. Richard Beaven was born in Calvert County, Maryland, say about 1676, married Jane Blanford before June 11, 1703, and died in Prince Georges County, Maryland, before August 9, 1744.[xxix]

2.  Sarah Beaven was born in Calvert County, Maryland, say about 1678, married Thomas Blanford on June 20, 1698, and died in Prince Georges County, Maryland, after August 7, 1749.[xxx]

3.  Margaret Beaven was born in Calvert County, Maryland, say about 1680, and died in Prince George’s County, Maryland, between April 28, 1712, and June 13, 1713.

4. Elizabeth Beaven was born in Calvert County, Maryland, say about 1682, married John Boone about 1708, and died in Prince Georges County, Maryland, before October 30, 1725.

5. Katherine Beaven was born in Calvert County, Maryland, say about 1684, married Henry Culver about 1711, and died in Prince Georges County, Maryland, before December 20, 1762.[xxxi]

6. Charles Beaven was born in Calvert County, Maryland, say about 1686, married Mary Finch about 1712, and died in Prince Georges County, Maryland, on December 16, 1761.[xxxii]

Daughters pedigree

Following this lineage information, Shawn and Lois included a chromosome by chromosome analysis of the various individuals who tested.  I am including only one example, below.

Daughters DNA

Following the many pages of genetic comparison information, Shawn and Lois included quite a bit for their readers about the Piscataway History and Culture.  After all, DNA without genealogy and history is impersonal science.  Included were early drawings and paintings of Native people and villages, an account of the people by Father Andrew White in 1635 as well as anonymous documents from 1639 and 1640.  Their food, language and vocabulary were discussed as well with historical events being presented in timeline format.

Piscataway Timeline

1550           Piscataway Tayac governed c. 7,000 people between Potomac and Patuxent Rivers

1608           John Smith explored the Potomac River; Piscataway welcomed him with kindness

1622           Powhatan Indians attacked at least 31 Virginia settlements along the James River

1623           Virginia colonists attacked Moyaone, killing many and burning houses and corn

1634           Piscataway Tayac Wannas permitted Leonard Calvert to establish St Mary’s City

1640           Piscataway Tayac Kittamaquund was baptized by Jesuit Father Andrew White

1644           Wahocasso succeeded as Tayac, who was succeeded by Uttapoingassenem in 1658, who was succeeded by Wannasapapin in 1662, who was succeeded by Nattowasso (son of Wahocasso—breaking the tradition of matrilineal succession) in 1663

1666           Facing increasing encroachments by European settlers, the Piscataway petitioned the Maryland council, saying: “We can flee no further.  Let us know where to live, and how to be secured for the future from the hogs and cattle.”

1695           Maryland Governor Francis Nicholson “advised the council to find a way of depriving Indians beyond Mattawoman Creek of their lands, in order to ‘occasion a greater quantity of Tobacco to be made.'”

1697           Piscataway Tayac Ochotomaquath and about 400 others fled to northern Virginia; then they allied with the Iroquois in 1701 and moved to Pennsylvania.

1699           Maryland colonists estimated Piscataway military strength at 80-90 warriors

Although many Piscataway left Maryland by the end of the 17th century in the face of encroaching European settlements, others remained on their homeland, intermarrying with Europeans and Africans, while preserving their cultural traditions.  In 1996, an advisory committee appointed by the Maryland Historical Trust voted unanimously to recommend state recognition of the Piscataway Indian Nation, citing genealogical, linguistic, cultural, and political continuity between the earliest Piscataway people and their modern descendants.  On January 9, 2012, Maryland Governor Martin O’Malley issued two executive orders, granting official state recognition to the Piscataway Indian Nation (about 100 members), and the Piscataway Conoy Tribe—consisting of the Piscataway Conoy Confederacy and Subtribes (about 3,500 members), and the Cedarville Band of Piscataway (about 500 members).

St Mary's City 1634 Indian Village

This drawing of St Mary’s City in 1634 by Cary Carson from the Maryland State Archives Map Collection shows the Native people living outside the city fortifications.

This 262 page book is a wonderful combination of genealogy, genetics and history, and does exactly what genetic genealogy is supposed to do.  It enables us to document and better understand our ancestors, and in this case, to prove they were indeed, Native American.  Shawn and Lois would welcome inquiries about the book or the family lines included and you can contact them at shpxlcp@comcast.net.


               [i] Most scholars estimate her year of birth as 1634, because an unidentified Catholic missionary made the following statement about her.  “On the 15th of February we came to Pascatoe, not without the great gratulation and joy of the inhabitants, who indeed seem well inclined to receive the christian faith.  So that not long after, the king brought his daughter, seven years old, (whom he loves with great affection,) to be educated among the English at St. Mary’s; and when she shall well understand the christian mysteries, to be washed in the sacred font of baptism.”  See “Extracts from Different Letters of Missionaries, from the Year 1635, to the Year 1638,” in E.A. Dalrymple, ed., Relatio Itineris in Marylandiam.  Declaratio Coloniae Domini Baronis de Baltimoro. Excerpta ex Diversis Litteris Missionariorum ab Anno 1635, ad Annum 1638, Narrative of a Voyage to Maryland, by Father Andrew White, S.J.  An Account of the Colony of the Lord Baron Baltimore.  Extracts from Different Letters of Missionaries, from the Year 1635 to the Year 1677 (Baltimore: Maryland Historical Society, 1874), 76.  But, the circumstances of Mary’s life suggest she was born a few years earlier.  So, we suspect the author of this letter underestimated her age.

               [ii] Father Andrew White, “Annual Letter of the English Province of the Society of Jesus, 1639,” in Clayton Colman Hall, ed., Narratives of Early Maryland, 1633-1684 (New York: Barnes & Noble, Inc., 1910), 126.

               [iii] Ibid.

               [iv] Ibid., 131.

               [v] John Lewger to Governor Leonard Calvert, January 9, 1644/5, in Proceedings of the Council of Maryland, 1636-1667, Vol 3, pp. 162-163 (original pages 186-187), Archives of Maryland Online.  “To the horle Governor.  Sir  I doe signify unto you that Mr Giles Brent hath delivered unto me 2. petitions nerewth sent unto you; and I desire you by vertue of the Law in that behalfe, that you wilbe pleased to give him a competent security for his indemnification in the possession of the lands at Kent, mentioned in one of the said petitions, & for iustification of his title in them, according to the said petition, dated 7. January instant: & likewise to satisfy unto him 5700l tob & cask, demanded in the other petition for damage of non pformance of a covenant to his wife Mary touching certaine cattell; or els to shew cause why you refuse to doe either; and to appoint some time when the Counsell shall attend you for it, betweene this & Monday next.  So humbly take leave to rest  Yor servant  S. Johns. 9th Jan: 1644 John Lewger.”  See also Margaret Brent, “Account of the Estate of Governor Leonard Calvert,” June 6, 1648, in Judicial and Testamentary Business of the Provincial Court, 1637-1650, Vol. 4, pp. 388-389 (original pages 159-160).  “By payd to Mrs. Mary Brent Kittamagund 0748.”

               [vi] For information about the arrest and transport of Giles Brent to London during Richard Ingle’s Rebellion, see “Richard Ingle in Maryland” in Maryland Historical Magazine, Vol. 1(1906), 125-140.  For the terminus ad quem (limit to which—latest possible date) Giles Brent returned to Maryland, see Maryland State Archives, Judicial and Testamentary Business of the Provincial Court, 1637-1650, Vol. 4:312-313.  “June 19th This day came Margaret Brent Gent, & desyred the testimony of the prnt Gouernor Mr Tho: Greene concerning the last will & Testamt of the late Gouernor Leonard Calvert Esqr And the sd Gouernor did authorize Giles Brent Esqr one of his Lops Counsell to administer an oath unto him the sd Gouernr concerning the foresd busines.  The sd Gouernor Tho: Greene Esqr answered uppon oath concerning the last will & Testamt of Leo: Calvert Esqr aforesd That the sd Leo: Calvert, lying uppon his death bed, some 6 howres before his death, being in prfect memory, directing his speech to Mrs Margarett Brent sayd in pnce of him the sd Mr Greene & some others I make you my sole Exequutrix, Take all, & pay all.  After wch words hee the sd Leon: Calvert desyred every one to depart the roome & was some space in priuate conference wth Mrs Marg: Brent aforesd Afterwards the Mr Greene comeing into the roome againe, he heard the sd Mr L: Calvert appoint certaine Legacies in manner following.  Viz I doe giue my warring cloaths to James Linsay, & Richard William my servants, specifying his coath suite to Rich. Willan & his black suite to James Linsey. & his waring Linnen to be diuided betweene them.  Aliso I giue a mare Colt to my God sonne Leon: Greene.  Allso hee did desyre tht his exequutrix should giue the first mare Colt tht should fall this yeare, (& if non fall in this yeare, then the first tht shall hereafter fall) unto Mrs Temperance Pippett of Virginea.  And further he deposeth not.  Recognit Teste mc Willm Bretton Clk.”

               [vii] The terminus a quo (limit from which—earliest possible date) for the relocation of Giles Brent from Maryland to Virginia is the date Giles Brent appeared in court at St. Mary’s on November 8, 1648, requesting compensation for destruction of his property on the Isle of Kent by anti-Papists.  See Archives of Maryland, November 8, 1648, Liber A, Folio 205.  The terminus ad quem (limit to which—latest possible date) Giles Brent removed from Maryland to Virginia is the date Giles Brent patented Marlborough in Potomac Neck, Virginia, on August 20, 1651.  See entry from Mercer Land Book cited by W.B. Chilton, ed., “The Brent Family,” The Virginia Magazine of History and Biography, Vol. 16, No. 1 (Jul., 1908), 96-97.

               [viii] Virginia Magazine XVI, 211.  On April 17, 1654, Giles conveyed his personal estate in Virginia and Maryland to his sister Mary, in trust to educate his children and allow maintenance to his wife Mary.  See also Lurene Rose Bivin in “Brent-Marsham-Beaven-Blandford Article: A Closer Look,” Maryland Genealogical Society Bulletin, Vol. 37, No. 3, 328-334.  “In the grant to John Harrison (dated 4 September 1655), he refers to his “sister” as Mrs. Frances Harrison (Nugent, p. 319).”  Giles may have been engaged to marry his second wife, Frances Whitgreaves, widow of Jeremiah Harrison, on this date, because John Harrison made a provision for Giles.

               [ix] W.B. Chilton, ed., “The Brent Family,” The Virginia Magazine of History and Biography, Vol. 16, No. 2 (Oct., 1908), 212.  “‘Register of Christ Church, Middlesex County, Virginia.  Collo Giles Brent of Potomac departed this life 2d of September 1679 and was buried in the Great Church Yard ye next day following.'”

               [x] For example, see Douglas Richardson, Magna Carta Ancestry: A Study in Colonial and Medieval Families (Baltimore: Genealogical Publishing Co., Inc., 2005), 129.  “They had two sons, [Col.] Giles and Richard, and one daughter, Mary (wife of [Capt.] John Fitzherbert).”  See also, Robert W. Barnes, British Roots of Maryland Families (Baltimore: Genealogical Publishing Co., Inc., 1999), 73-74.

               [xi] W.B. Chilton, Vol. 16, No. 1 (Jul., 1908), 98-99.  “The Will of Margaret Brent.  In the name of God Amen.  I Margaret Brent of Peace in the County of Westmoreland in Virginia considering the casualtys of human life do therefore make this my last Will and Testament as followeth my soul I do bequeath to the mercies of my Savior Jesus Christ and my worldly estate to be disposed of by my Executors as followeth to my nephew George Brent I give all my rights to take up land in Maryland except those already assigned to my cousin James Clifton to my niece Clifton I give a cow and to my neece Elizabeth Brent I give a heifer; to Ann Vandan I give a cow calf; to my neece Mary Brent daughter of my Brother Giles Brent I give all my silver spoons which are six; to my nephew Richard Brent son of my brother Giles Brent I give my patent of lands at the Falls of Rappahanock River also my lease of Kent Fort Mannor in Maryland saving yet power to his Father my brother Giles Brent that if he shall like to do so he may sell said lease and satisfye to his son other where as he shall think fitt in lands good or money and in case of my said nephew Richard Brents death under age and without heirs of his body lawfully begotten his legacy thereto to go to his brother Giles Brent or his sister Mary Brent or to the heirs of my brother Giles Brent or otherwise as my said brother shall dispose it by his Deed or last Will to my brother Giles Brent and to his heirs forever I give all my lands goods and chattles and all my estate real and personal and all that is or may be due to me in England Virginia Maryland or elsewhere still excepting the before disposed of in this my last will and Testament and I do appoint him my said Brother Giles Brent and his children Giles Brent Mary Brent and Richard Brent or such of them as are living at the time of my death the Executors of this my last Will and Testament.  In witness whereof I have hereunto set my hand and seal this 26th day of December, Anno Domini, 1663.”

               [xii] W.B. Chilton, Vol. 16, No. 1 (Jul., 1908), 98.  “The Will of Giles Brent.  In the Name of God Amen.  I Giles Brent of the Retirement in Stafford County in Virginia Esquire contemplating the uncertainty of my time of death do ordain this my last Will and Testament in manner and form following my body to the earth and my Soul I bequeath to the mercy of my Savior Christ all my worldly estate I appoint to my Exectors to be disposed of as followeth to my daughter Mary Fitzherbert I give five ewes and a ram to my son and heir Giles Brent and to the heirs of his body lawfully begotten I give for ever all my lands rights unto lands and reversions of lands any ways due to me in either England Virginia or Maryland and for want of such heirs then unto mine own right heirs and for want of such then to the right heirs of my Honored Father Richard Brent, Esquire, deceased Antiently Lord of the mannors of Admington and Lark Stoke in the County of Gloucestershire in England after my debts paid I give all my goods moveable or immoveable whatsoever to be disposed of as followeth three thousand pounds of good tobacco with cask to be given by them my Executors unto pious use where and to whom they shall see fitt for which doing and how and to whom given I Will that to none else but God they shall be accountable.  I also Will that to Mr. Edward Sanders they give four ewes and a ram and to John Howard four ewes and a ram.  Executors of this my last Will and Testament I appoint my son Giles Brent and my Brother Richard Brent and my Brother William Brent both in England and as Attorneys in their Executorship untill my said Brothers shall otherwise order and I do appoint Mr. Edward Sanders and John Howard above mentioned both of Stafford County to be and to act and it is my Will that after my debts and my Legacies paid my said Executors stand possessed of all my goods and personal estate to the sole use of my son Giles Brent then to be delivered into his sole dispose when it shall please God that he hath arrived to the age of one and twenty years.  In witness unto this my within written last Will and Testament I have hereunto set my hand and seal this last day of August, Anno Domini, 1671.”

               [xiii] Image SC4040-0166-1, Dr. Lois Green Carr’s Biographical Files of 17th and 18th Century Marylanders, Maryland State Archives, http://msa.maryland.gov/megafile/msa/speccol/sc4000/sc4040/000001/000166/html/sc4040-0166-1.html.  Note: Dr. Carr lists the children in the following order: Mary, Giles, Richard, Katherine, Henry, Margaret.

               [xiv] See excerpt from Charles Calvert to Cecilius Calvert, April 26, 1672, in William Hand Browne, ed., Proceedings of the Council of Mayland: 1671-1682 (Baltimore: Maryland Historical Society, 1896), xiv.  “Major Fitzherbert’s brother who maryed the Indian Brent, has civilly parted with her, and (as I suppose) will never care to bed with her more; soe that your Lordship needs not to feare any ill consequence from that match, butt what has already happened to the poore man, who unadvisedly threw himself away upon her in hopes of a great portion which now is come to little.”  See also Will of Charles Beaven, signed June 20, 1698, proved June 21, 1699, Prerogative Court (Wills) Vol. 2, pp. 182-183, Liber 6, Folios 285-286.  See also Will of Mary Beaven, signed April 18, 1712, proved June 13, 1713, Prerogative Court (Wills) Vol. 3, p. 240, Liber 13, Folio 513.  See also Maryland Land Patents, BB#37:374.  On March 15, 1696/7, Richard Marsham transferred 600 acre grant called The Hickory Thickett to Charles Beaven by assignment.

               [xv] Lurene Rose Bivin in “Brent-Marsham-Beaven-Blandford Article: A Closer Look,” Maryland Genealogical Society Bulletin, Vol. 37, No. 3, 328-334.

               [xvi] Four potential scenarios explain this matching DNA considered together with Charles Beaven’s reference to Richard Marsham as “my brother iñ Richard Marsham.”  The first scenario is Richard Marsham and Charles Beaven were brothers.  This scenario almost certainly is not true because Richard Marsham and Charles Beaven had different last names and the written reference by Charles Beaven to Richard Marsham as “my brother iñ” appears to have been a standard contraction of “my brother-in-law.”  The second scenario is Richard Marsham and Mary, wife of Charles Beaven, were brother and sister.  This scenario almost certainly is not true because Mary referred to Richard Marsham as “my well beloved Richard Marsham.”  If Richard Marsham and Mary had been brother and sister, Mary surely would have referred to Richard as her brother.  The third scenario is Charles Beaven and Katherine, wife of Richard Marsham, were brother and sister.  This scenario almost certainly is not true because their descendants inherited matching segments of Native American DNA.  Charles Beaven immigrated from England to Maryland in 1666 (Skordas, Liber 9, folio 455), so he surely did not inherit Native American DNA from his parents.  The fourth and most compelling scenario is Katherine, wife of Richard Marsham, and Mary, wife of Charles Beaven, were sisters, and they also were daughters of a parent with Native American ancestry.  This scenario is consistent with other indications that Katherine and Mary were daughters of Mary Kittamaquund and Giles Brent.

               [xvii] Maryland Colonial Land Records, Liber 7, Folio 582, 583, Maryland State Archives.  “March xith 1664.  Came David Bowens and demands land for these rights following John Barnes, Clement Barnes, Margaret Whitthe, Martha Garbett, Catherine Marsham by Assign and Francis Street by Assign as follows–Know all to whom these presents may concern, that I Katherine Marsham doe assigne all my Right and Title of a Right due to mee the said Katherine for fifty acres of land unto David Bowing as witness my hand this Eleventh of March One Thousand six hundred sixty foure.  Katherine Marsham (her K mark).  Witness Richard Marsham, Robert Turner.  Know all men by these presents to whom this may concern that I Francis Streete doe assigne all my Right and Title of a right due to mee the said Francis Streete for fifty acres of Land unto David Bowing as witness my hand this Eleventh of March One Thousand six hundred sixty four.  Francis Streete.  Witness Richard Marsham, Robert Turner.”  See also Maryland Colonial Land Records, Liber 12, Folio 512, Maryland State Archives.  “May 11th 1670.  Came Richard Marsham of Calvert County and proved right to fifty acres of land it being due to him for the time of service of Katherine his wife performed to Major Thomas Brooke, Warrant then issued in the name of the said Richard Marsham for fifty acres of land it being due to him for the causio oraem above.  Certified the 11th of August next.”  Note: Even though these two documents indicate Katherine was due a total of 100 acres, the first 50 acres for an unstated cause and the second 50 acres for service to Thomas Brooke, neither record says Katherine was transported to Maryland, and both records may result from fraudulent claims.  If these records reflect legitimate claims, they do not say or prove Katherine was transported to Maryland, since some claims were granted for people who were born in Maryland.  For example, a patent for 1,644 acres was granted to Mary Brent on November 17, 1652, for the transportation of 33 persons, including “Mrs. Mary Brent, wife to Capt. Brent.”  See Nugent, pp. 266-267.  This Mrs. Mary Brent was Mary Kittamaquund, wife of Giles Brent, who certainly was born in Maryland.  Furthermore, according to Abbott Emerson Smith (“The Indentured Servant and Land Speculation in Seventeenth Century Maryland,” in The American Historical Review, Vol. 40, p. 467), “A great many of the warrants which were granted were for rights proved by the wife of a freedman.  It is not unlikely that some persons managed to get freedom dues in land, although they had never been in indentured service.”  Finally, if Katherine did serve a term of indenture, her service may have resulted from the death of her mother at a time when she was old enough to begin providing for her own maintenance.  It was not unusual during this era for children of deceased well-to-do colonists to serve a term of indenture.

               [xviii] See Maryland Colonial Land Records, Liber 4, Folio 4, Maryland State Archives.  “May the 7th 1659.  John Home demands Land for the transportation of himself and his Servants, Richard Marsham & John Edmondson, in 1658.”  See also Maryland Colonial Land Records, Liber 5, Folio 295, Maryland State Archives.  “Know all men that I Richard Marsham do give and make over to Thomas Pagett my right as is due to me as being a Servant, and now being free in Roberto McJohn Hearen as witness my hand the 16th of September 1661.  Richard Marsham.  Wit: Robert Coberthwail, Michael Coreuly.”

               [xix] See Maryland Colonial Land Records, Liber 12, Folio 512, Maryland State Archives, as cited above.  “May 11th 1670.  Came Richard Marsham of Calvert County and proved right to fifty acres of land it being due to him for the time of service of Katherine his wife performed to Major Thomas Brooke, Warrant then issued in the name of the said Richard Marsham for fifty acres of land it being due to him for the causio oraem above.  Certified the 11th of August next.”  See also Maryland Colonial Land Records, October 26, 1670, Liber 14, Folio 228.  “Patent for 50 acres in St. Mary’s County, originally Calvert County, to Richard Marsham, tract called St. Katherine’s.”  Note: This patent establishes the terminus ad quem (limit to which—latest possible date) for Katherine’s death, because Richard would be unlikely to name this property Saint Katherine’s unless Katherine had died.

               [xx] The terminus a quo (limit from which—earliest possible date) for Richard’s marriage to Anne Calvert is established by the date of a Prerogative Court record concerning the estate of Henry Brent naming Anne Brent executrix.  See Prerogative Court Records, April 30, 1695, Liber 13A, folio 291, Maryland State Archives.  The terminus ad quem (limit to which—latest possible date) for Richard’s marriage to Anne Calvert is the date they were named as husband and wife on a probate record.  See Provincial Court Judgments, February Court 1696, Liber P. L. #3, Folios 556-557, Maryland State Archives.  Richard Marsham with Ann Marsham, administrator of Henry Brent, against Thomas Collier.

               [xxi] Will of Richard Marsham, signed April 14, 1713, probated April 22, 1713, Maryland Prerogative Court (Wills), Liber xiii, Folio 514-520, Maryland State Archives.

               [xxii] The approximate year of Sarah’s marriage to Basil Waring is estimated from the year of Basil’s death preceded by four years to account for the births of two children.  See Will of Basil Waring, signed December 8, 1688, probated December 29, 1688, Maryland Calendar of Wills, Vol. 2, p. 50, and Liber 6, Folio 66.  Basil named his wife Sarah and sons Marsham and Basil.  The terminus a quo (limit from which—earliest possible date) for Sarah’s marriage to William Barton is determined by the probate date of the will of her first husband Basil Waring.  See Will of Basil Waring, signed December 8, 1688, probated December 29, 1688, Maryland Calendar of Wills, Vol. 2, p. 50, and Liber 6, Folio 66.  The terminus a quo (limit from which—earliest possible date) for Sarah’s death is determined by her deed to Robert Mackhorn.  See Deed from Sarah Haddock to Robert Mackhorn, signed January 8, 1733, recorded March 18, 1733/4, Charles County Land Rcords: 1733-1743, Book O #2, page 28.  “Sarah Haddock, widow, of Prince George’s County, formerly wife of William Barton, late of Charles County, Gent., deceased, to Robert Mackhorn of Charles County, planter.  William Barton by his will, divised to his son-in-law, Basil Waring, 300 acres, being part of this tract of land called Hadlow, lying in Charles County, and the rest of Hadlow to his wife, being now the aforementioned Sarah Haddock.  Now this deed witnesses that sd. Sarah Haddock, for 4500 lbs tobacco, has sold to said Robert the rest of Hadlow, lying in Charles County, bounded by Thos. Gerard, the division line made by sd. Sarah Haddock and Basil Waring.  Signed Sarah Haddock.  Wit. Jas. Haddock Waring, Henry Keen.”

               [xxiii] The approximate year of Katherine’s marriage to Baker Brook is estimated from the year of Baker’s death preceded by eight years to account for the births of four children.  See Will of Baker Book, signed February 5, 1698, probated May 27, 1698, Maryland Calendar of Wills, Vol. 2, p. 142, and Liber 6, Folio 83.  Baker named his wife Katherine and four children Baker, Leonard, Richard, and Ann.  The terminus ad quem (limit to which—latest possible date) for Katherine’s marriage to Samuel Queen is determined by the probate date of the will of her first husband Baker Brooke.  See Will of Baker Book, signed February 5, 1698, probated May 27, 1698, Maryland Calendar of Wills, Vol. 2, p. 142, Liber 6, Folio 83.  The terminus a quo (limit from which—earliest possible date) for Katherine’s death is determined by the date her husband’s will was probated.  See Will of Samuel Queen, signed January 10, 1711, probated March 18, 1712, Maryland Prerogative Court (Wills), Vol. 3, p. 222, Liber 13, Folio 389, Maryland State Archives.  The terminus ad quem (limit to which—latest possible date) for Katherine’s death is determined by the date of the will of her father, Richard Marsham, which provides for her children but does not mention her.  See Will of Richard Marsham, signed April 14, 1713, probated April 22, 1713, Maryland Prerogative Court (Wills), Liber 13, Folios 514-520, Maryland State Archives.

               [xxiv] On April 5, 1673, Giles Brent Jr., son of Col. Giles Brent and Mary Kittamaquund, deeded 500 acres, which he had inherited from his father, to his uncle George Brent of Woodstock, Stafford County, Virginia, stating he had reached the age of 21—a condition set in his father’s will for his ability to take possession of the land.  This suggests Giles Brent Jr. was born about 1652.  See W.B. Chilton, Vol. 16, No. 1 (Jul., 1908), 99-100.

               [xxv] Will of Giles Brent, signed August 31, 1671, in W.B. Chilton, Vol. 16, No. 1 (Jul., 1908), 98.

               [xxvi] See excerpt from Charles Calvert to Cecilius Calvert, April 26, 1672, in William Hand Browne, ed., Proceedings of the Council of Mayland: 1671-1682 (Baltimore: Maryland Historical Society, 1896), xiv.  “Major Fitzherbert’s brother who maryed the Indian Brent, has civilly parted with her, and (as I suppose) will never care to bed with her more; soe that your Lordship needs not to feare any ill consequence from that match, butt what has already happened to the poore man, who unadvisedly threw himself away upon her in hopes of a great portion which now is come to little.”

               [xxvii] Will of Charles Beaven, signed January 20, 1698/9, proven June 2, 1699, Prince Georges County Wills, Liber 6, folios 285-286,  Maryland State Archives.

               [xxviii] Will of Mary Beavan, signed April 28, 1712, proven June 13, 1713, Prince Georges County Wills, Liber 13, folio 513, Maryland State Archives.

               [xxix] Will of Richard Bevan Sr., signed February 27, 1738/9, proven May 21, 1739, Maryland Calendar of Wills, Vol. 8, p. 789, Liber 22, folio 58, Maryland State Archives.  For the terminus ad quem (limit to which—latest possible date) of Richard’s marriage to Jane Blandford, see Administration of the Will of William Bayly, June 11, 1703, Liber 24, folio 16a, Prince Georges County, MD.  “Executrix, Mrs. Jane Beven, wife of Richard Beven.”

               [xxx] Will of Thomas Blandford, signed June 17, 1749, proven August 7, 1749, Maryland Calendar of Wills, Maryland State Archives.  Thomas named his wife Sarah executrix.

               [xxxi] Will of Catherine Culver, signed October 6, 1762, proven December 20, 1762, Maryland Calendar of Wills, Vol. 31, pp. 890-891, Maryland State Archives.

               [xxxii] Charles Beaven signed a deposition in 1728, claiming to be 42 years of age.

2013’s Dynamic Dozen – Top Genetic Genealogy Happenings

dna 8 ball

Last year I wrote a column at the end of the year titled  “2012 Top 10 Genetic Genealogy Happenings.”  It’s amazing the changes in this industry in just one year.  It certainly makes me wonder what the landscape a year from now will look like.

I’ve done the same thing this year, except we have a dozen.  I couldn’t whittle it down to 10, partly because there has been so much more going on and so much change – or in the case of Ancestry, who is noteworthy because they had so little positive movement.

If I were to characterize this year of genetic genealogy, I would call it The Year of the SNP, because that applies to both Y DNA and autosomal.  Maybe I’d call it The Legal SNP, because it is also the year of law, court decisions, lawsuits and FDA intervention.  To say it has been interesting is like calling the Eiffel Tower an oversized coat hanger.

I’ll say one thing…it has kept those of us who work and play in this industry hopping busy!  I guarantee you, the words “I’m bored” have come out of the mouth of no one in this industry this past year.

I’ve put these events in what I consider to be relatively accurate order.  We could debate all day about whether the SNP Tsunami or the 23andMe mess is more important or relevant – and there would be lots of arguing points and counterpoints…see…I told you lawyers were involved….but in reality, we don’t know yet, and in the end….it doesn’t matter what order they are in on the list:)

Y Chromosome SNP Tsunami Begins

The SNP tsumani began as a ripple a few years ago with the introduction at Family Tree DNA of the Walk the Y program in 2007.  This was an intensively manual process of SNP discovery, but it was effective.

By the time that the Geno 2.0 chip was introduced in 2012, 12,000+ SNPs would be included on that chip, including many that were always presumed to be equivalent and not regularly tested.  However, the Nat Geo chip tested them and indeed, the Y tree became massively shuffled.  The resolution to this tree shuffling hasn’t yet come out in the wash.  Family Tree DNA can’t really update their Y tree until a publication comes out with the new tree defined.  That publication has been discussed and anticipated for some time now, but it has yet to materialize.  In the mean time, the volunteers who maintain the ISOGG tree are swamped, to say the least.

Another similar test is the Chromo2 introduced this year by Britain’s DNA which scans 15,000 SNPs, many of them S SNPs not on the tree nor academically published, adding to the difficulty of figuring out where they fit on the Y tree.  While there are some very happy campers with their Chromo2 results, there is also a great deal of sloppy science, reporting and interpretation of “facts” through this company.  Kind of like Jekyll and Hyde.  See the Sloppy Science section.

But Walk the Y, Chromo2 and Geno 2.0, are only the tip of the iceburg.  The new “full Y” sequencing tests brought into the marketspace quietly in early 2013 by Full Genomes and then with a bang by Family Tree DNA with the their Big Y in November promise to revolutionize what we know about the Y chromosome by discovering thousands of previously unknown SNPs.  This will in effect swamp the Y tree whose branches we thought were already pretty robust, with thousands and thousands of leaves.

In essence, the promise of the “fully” sequenced Y is that what we might term personal or family SNPs will make SNP testing as useful as STR testing and give us yet another genealogy tool with which to separate various lines of one genetic family and to ratchet down on the time that the most common recent ancestor lived.

https://dna-explained.com/2013/03/31/new-y-dna-haplogroup-naming-convention/

https://dna-explained.com/2013/11/10/family-tree-dna-announces-the-big-y/

https://dna-explained.com/2013/11/16/what-about-the-big-y/

http://www.yourgeneticgenealogist.com/2013/11/first-look-at-full-genomes-y-sequencing.html

http://cruwys.blogspot.com/2013/12/a-first-look-at-britainsdna-chromo-2-y.html

http://cruwys.blogspot.com/2013/11/yseqnet-new-company-offering-single-snp.html

http://cruwys.blogspot.com/2013/11/the-y-chromosome-sequence.html

http://cruwys.blogspot.com/2013/11/a-confusion-of-snps.html

http://cruwys.blogspot.com/2013/11/a-simplified-y-tree-and-common-standard.html

23andMe Comes Unraveled

The story of 23andMe began as the consummate American dotcom fairy tale, but sadly, has deteriorated into a saga with all of the components of a soap opera.  A wealthy wife starts what could be viewed as an upscale hobby business, followed by a messy divorce and a mystery run-in with the powerful overlording evil-step-mother FDA.  One of the founders of 23andMe is/was married to the founder of Google, so funding, at least initially wasn’t an issue, giving 23andMe the opportunity to make an unprecedented contribution in the genetic, health care and genetic genealogy world.

Another way of looking at this is that 23andMe is the epitome of the American Dream business, a startup, with altruism and good health, both thrown in for good measure, well intentioned, but poorly managed.  And as customers, be it for health or genealogy or both, we all bought into the altruistic “feel good” culture of helping find cures for dread diseases, like Parkinson’s, Alzheimer’s and cancer by contributing our DNA and responding to surveys.

The genetic genealogy community’s love affair with 23andMe began in 2009 when 23andMe started focusing on genealogy reporting for their tests, meaning cousin matches.  We, as a community, suddenly woke up and started ordering these tests in droves.  A few months later, Family Tree DNA also began offering this type of testing as well.  The defining difference being that 23andMe’s primary focus has always been on health and medical information with Family Tree DNA focused on genetic genealogy.  To 23andMe, the genetic genealogy community was an afterthought and genetic genealogy was just another marketing avenue to obtain more people for their health research data base.  For us, that wasn’t necessarily a bad thing.

For awhile, this love affair went along swimmingly, but then, in 2012, 23andMe obtained a patent for Parkinson’s Disease.  That act caused a lot of people to begin to question the corporate focus of 23andMe in the larger quagmire of the ethics of patenting genes as a whole.  Judy Russell, the Legal Genealogist, discussed this here.  It’s difficult to defend 23andMe’s Parkinson’s patent while flaying alive Myriad for their BRCA patent.  Was 23andMe really as altruistic as they would have us believe?

Personally, this event made me very nervous, but I withheld judgment.  But clearly, that was not the purpose for which I thought my DNA, and others, was being used.

But then came the Designer Baby patent in 2013.  This made me decidedly uncomfortable.  Yes, I know, some people said this really can’t be done, today, while others said that it’s being done anyway in some aspects…but the fact that this has been the corporate focus of 23andMe with their research, using our data, bothered me a great deal.  I have absolutely no issue with using this information to assure or select for healthy offspring – but I have a personal issue with technology to enable parents who would select a “beauty child,” one with blonde hair and blue eyes and who has the correct muscles to be a star athlete, or cheerleader, or whatever their vision of their as-yet-unconceived “perfect” child would be.  And clearly, based on 23andMe’s own patent submission, that is the focus of their patent.

Upon the issuance of the patent, 23andMe then said they have no intention of using it.  They did not say they won’t sell it.  This also makes absolutely no business sense, to focus valuable corporate resources on something you have no intention of using?  So either they weren’t being truthful, they lack effective management or they’ve changed their mind, but didn’t state such.

What came next, in late 2013 certainly points towards a lack of responsible management.

23andMe had been working with the FDA for approval the health and medical aspect of their product (which they were already providing to consumers prior to the November 22nd cease and desist order) for several years.  The FDA wants assurances that what 23andMe is telling consumers is accurate.  Based on the letter issued to 23andMe on November 22nd, and subsequent commentary, it appears that both entities were jointly working towards that common goal…until earlier this year when 23andMe mysteriously “somehow forgot” about the FDA, the information they owed them, their submissions, etc.  They also forgot their phone number and their e-mail addresses apparently as well, because the FDA said they had heard nothing from them in 6 months, which backdates to May of 2013.

It may be relevant that 23andMe added the executive position of President and filled it in June of 2013, and there was a lot of corporate housecleaning that went on at that time.  However, regardless of who got housecleaned, the responsibility for working with the FDA falls squarely on the shoulders of the founders, owners and executives of the company.  Period.  No excuses.  Something that critically important should be on the agenda of every executive management meeting.   Why?  In terms of corporate risk, this was obviously a very high risk item, perhaps the highest risk item, because the FDA can literally shut their doors and destroy them.  There is little they can do to control or affect the FDA situation, except to work with the FDA, meet deadlines and engender goodwill and a spirit of cooperation.  The risk of not doing that is exactly what happened.

It’s unknown at this time if 23andMe is really that corporately arrogant to think they could simply ignore the FDA, or blatantly corporately negligent or maybe simply corporately stupid, but they surely betrayed the trust and confidence of their customers by failing to meet their commitments with and to the FDA, or even communicate with them.  I mean, really, what were they thinking?

There has been an outpouring of sympathy for 23andme and negative backlash towards the FDA for their letter forcing 23andMe to stop selling their offending medical product, meaning the health portion of their testing.  However, in reality, the FDA was only meting out the consequences that 23andMe asked for.  My teenage kids knew this would happen.  If you do what you’re not supposed to….X, Y and Z will, or won’t, happen.  It’s called accountability.  Just ask my son about his prom….he remembers vividly.  Now why my kids, or 23andMe, would push an authority figure to that point, knowing full well the consequences, utterly mystifies me.  It did when my son was a teenager and it does with 23andMe as well.

Some people think that the FDA is trying to stand between consumers and their health information.  I don’t think so, at least not in this case.  Why I think that is because the FDA left the raw data files alone and they left the genetic genealogy aspect alone.  The FDA knows full well you can download your raw data and for $5 process it at a third party site, obtaining health related genetic information.  The difference is that Promethease is not interpreting any data for you, only providing information.

There is some good news in this and that is that from a genetic genealogy perspective, we seem to be safe, at least for now, from government interference with the testing that has been so productive for genetic genealogy.  The FDA had the perfect opportunity to squish us like a bug (thanks to the opening provided by 23andMe,) and they didn’t.

The really frustrating aspect of this is that 23andMe was a company who, with their deep pockets in Silicon Valley and other investors, could actually afford to wage a fight with the FDA, if need be.  The other companies who received the original 2010 FDA letter all went elsewhere and focused on something else.  But 23andMe didn’t, they decided to fight the fight, and we all supported their decision.  But they let us all down.  The fight they are fighting now is not the battle we anticipated, but one brought upon themselves by their own negligence.  This battle didn’t have to happen, and it may impair them financially to such a degree that if they need to fight the big fight, they won’t be able to.

Right now, 23andMe is selling their kits, but only as an ancestry product as they work through whatever process they are working through with the FDA.  Unfortunately, 23andMe is currently having some difficulties where the majority of matches are disappearing from some testers records.  In other cases, segments that previously matched are disappearing.  One would think, with their only revenue stream for now being the genetic genealogy marketspace that they would be wearing kid gloves and being extremely careful, but apparently not.  They might even consider making some of the changes and enhancements we’ve requested for so long that have fallen on deaf ears.

One thing is for sure, it will be extremely interesting to see where 23andMe is this time next year.  The soap opera continues.

I hope for the sake of all of the health consumers, both current and (potentially) future, that this dotcom fairy tale has a happy ending.

Also, see the Autosomal DNA Comes of Age section.

https://dna-explained.com/2013/10/05/23andme-patents-technology-for-designer-babies/

http://www.thegeneticgenealogist.com/2013/10/07/a-new-patent-for-23andme-creates-controversy/

https://dna-explained.com/2013/11/13/genomics-law-review-discusses-designing-children/

http://www.thegeneticgenealogist.com/2013/06/11/andy-page-fills-new-president-position-at-23andme/

https://dna-explained.com/2013/11/25/fda-orders-23andme-to-discontinue-testing/

https://dna-explained.com/2013/11/26/now-what-23andme-and-the-fda/

https://dna-explained.com/2013/12/06/23andme-suspends-health-related-genetic-tests/

http://www.legalgenealogist.com/blog/2013/11/26/fooling-with-fda/

Supreme Court Decision – Genes Can’t Be Patented – Followed by Lawsuits

In a landmark decision, the Supreme Court determined that genes cannot be patented.  Myriad Genetics held patents on two BRCA genes that predisposed people to cancer.  The cost for the tests through Myriad was about $3000.  Six hours after the Supreme Court decision, Gene By Gene announced that same test for $995.  Other firms followed suit, and all were subsequently sued by Myriad for patent infringement.  I was shocked by this, but as one of my lawyer friends clearly pointed out, you can sue anyone for anything.  Making it stick is yet another matter.  Many firms settle to avoid long and very expensive legal battles.  Clearly, this issue is not yet resolved, although one would think a Supreme Court decision would be pretty definitive.  It potentially won’t be settled for a long time.

https://dna-explained.com/2013/06/13/supreme-court-decision-genes-cant-be-patented/

http://www.legalgenealogist.com/blog/2013/06/14/our-dna-cant-be-patented/

https://dna-explained.com/2013/09/07/message-from-bennett-greenspan-free-my-genes/

http://www.thegeneticgenealogist.com/2013/06/13/new-press-release-from-dnatraits-regarding-the-supreme-courts-holding-in-myriad/

http://www.legalgenealogist.com/blog/2013/08/18/testing-firms-land-counterpunch/

http://www.legalgenealogist.com/blog/2013/07/11/myriad-sues-genetic-testing-firms/

Gene By Gene Steps Up, Ramps Up and Produces

As 23andMe comes unraveled and Ancestry languishes in its mediocrity, Gene by Gene, the parent company of Family Tree DNA has stepped up to the plate, committed to do “whatever it takes,” ramped up the staff both through hiring and acquisitions, and is producing results.  This is, indeed, a breath of fresh air for genetic genealogists, as well as a welcome relief.

https://dna-explained.com/2013/08/07/gene-by-gene-acquires-arpeggi/

https://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

https://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

http://www.haplogroup.org/ftdna-family-finder-matches-get-new-look/

http://www.haplogroup.org/ftdna-family-finder-new-look-2/

http://www.haplogroup.org/ftdna-family-finder-matches-new-look-3/

Autosomal DNA Comes of Age

Autosomal DNA testing and analysis has simply exploded this past year.  More and more people are testing, in part, because Ancestry.com has a captive audience in their subscription data base and more than a quarter million of those subscribers have purchased autosomal DNA tests.  That’s a good thing, in general, but there are some negative aspects relative to Ancestry, which are in the Ancestry section.

Another boon to autosomal testing was the 23andMe push to obtain a million records.  Of course, the operative word here is “was” but that may revive when the FDA issue is resolved.  One of the down sides to the 23andMe data base, aside from the fact that it’s not genealogist friendly, is that so many people, about 90%, don’t communicate.  They aren’t interested in genealogy.

A third factor is that Family Tree DNA has provided transfer ability for files from both 23andMe and Ancestry into their data base.

Fourth is the site, GedMatch, at www.gedmatch.com which provides additional matching and admixture tools and the ability to match below thresholds set by the testing companies.  This is sometimes critically important, especially when comparing to known cousins who just don’t happen to match at the higher thresholds, for example.  Unfortunately, not enough people know about GedMatch, or are willing to download their files.  Also unfortunate is that GedMatch has struggled for the past few months to keep up with the demand placed on their site and resources.

A great deal of time this year has been spent by those of us in the education aspect of genetic genealogy, in whatever our capacity, teaching about how to utilize autosomal results. It’s not necessarily straightforward.  For example, I wrote a 9 part series titled “The Autosomal Me” which detailed how to utilize chromosome mapping for finding minority ethnic admixture, which was, in my case, both Native and African American.

As the year ends, we have Family Tree DNA, 23andMe and Ancestry who offer the autosomal test which includes the relative-matching aspect.  Fortunately, we also have third party tools like www.GedMatch.com and www.DNAGedcom.com, without which we would be significantly hamstrung.  In the case of DNAGedcom, we would be unable to perform chromosome segment matching and triangulation with 23andMe data without Rob Warthen’s invaluable tool.

https://dna-explained.com/2013/06/21/triangulation-for-autosomal-dna/

https://dna-explained.com/2013/07/13/combining-tools-autosomal-plus-y-dna-mtdna-and-the-x-chromosome/

https://dna-explained.com/2013/07/26/family-tree-dna-levels-the-playing-field-sort-of/

https://dna-explained.com/2013/08/03/kitty-coopers-chromsome-mapping-tool-released/

https://dna-explained.com/2013/09/29/why-dont-i-match-my-cousin/

https://dna-explained.com/2013/10/03/family-tree-dna-updates-family-finder-and-adds-triangulation/

https://dna-explained.com/2013/10/21/why-are-my-predicted-cousin-relationships-wrong/

https://dna-explained.com/2013/12/05/family-tree-dna-listens-and-acts/

https://dna-explained.com/2013/12/09/chromosome-mapping-aka-ancestor-mapping/

https://dna-explained.com/2013/12/10/family-tree-dnas-family-finder-match-matrix-released/

https://dna-explained.com/2013/12/15/one-chromosome-two-sides-no-zipper-icw-and-the-matrix/

https://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/

DNAGedcom – Indispensable Third Party Tool

While this tool, www.dnagedcom.com, falls into the Autosomal grouping, I have separated it out for individual mention because without this tool, the progress made this year in autosomal DNA ancestor and chromosomal mapping would have been impossible.  Family Tree DNA has always provided segment matching boundaries through their chromosome browser tool, but until recently, you could only download 5 matches at a time.  This is no longer the case, but for most of the year, Rob’s tool saved us massive amounts of time.

23andMe does not provide those chromosome boundaries, but utilizing Rob’s tool, you can obtain each of your matches in one download, and then you can obtain the list of who your matches match that is also on your match list by requesting each of those files separately.  Multiple steps?  Yes, but it’s the only way to obtain this information, and chromosome mapping without the segment data is impossible

A special hats off to Rob.  Please remember that Rob’s site is free, meaning it’s donation based.  So, please donate if you use the tool.

http://www.yourgeneticgenealogist.com/2013/01/brought-to-you-by-adoptiondna.html

I covered www.Gedmatch.com in the “Best of 2012” list, but they have struggled this year, beginning when Ancestry announced that raw data file downloads were available.  GedMatch consists of two individuals, volunteers, who are still struggling to keep up with the required processing and the tools.  They too are donation based, so don’t forget about them if you utilize their tools.

Ancestry – How Great Thou Aren’t

Ancestry is only on this list because of what they haven’t done.  When they initially introduced their autosomal product, they didn’t have any search capability, they didn’t have a chromosome browser and they didn’t have raw data file download capability, all of which their competitors had upon first release.  All they did have was a list of your matches, with their trees listed, with shakey leaves if you shared a common ancestor on your tree.  The implication, was, and is, of course, that if you have a DNA match and a shakey leaf, that IS your link, your genetic link, to each other.  Unfortunately, that is NOT the case, as CeCe Moore documented in her blog from Rootstech (starting just below the pictures) as an illustration of WHY we so desperately need a chromosome browser tool.

In a nutshell, Ancestry showed the wrong shakey leaf as the DNA connection – as proven by the fact that both of CeCe’s parents have tested at Ancestry and the shakey leaf person doesn’t match the requisite parent.  And there wasn’t just one, not two, but three instances of this.  What this means is, of course, that the DNA match and the shakey leaf match are entirely independent of each other.  In fact, you could have several common ancestors, but the DNA at any particular location comes only from one on either Mom or Dad’s side – any maybe not even the shakey leaf person.

So what Ancestry customers are receiving is a list of people they match and possible links, but most of them have no idea that this is the case, and blissfully believe they have found their genetic connection.  They have found a genealogical cousin, and it MIGHT be the genetic connection.  But then again, they could have found that cousin simply by searching for the same ancestor in Ancestry’s data base.  No DNA needed.

Ancestry has added a search feature, allowed raw data file downloads (thank you) and they have updated their ethnicity predictions.  The ethnicity predictions are certainly different, dramatically different, but equally as unrealistic.  See the Ethnicity Makeovers section for more on this.  The search function helps, but what we really need is the chromosome browser, which they have steadfastly avoided promising.  Instead, they have said that they will give us “something better,” but nothing has materialized.

I want to take this opportunity, to say, as loudly as possible, that TRUST ME IS NOT ACCEPTABLE in any way, shape or form when it comes to genetic matching.  I’m not sure what Ancestry has in mind by the way of “better,” but it if it’s anything like the mediocrity with which their existing DNA products have been rolled out, neither I nor any other serious genetic genealogist will be interested, satisfied or placated.

Regardless, it’s been nearly 2 years now.  Ancestry has the funds to do development.  They are not a small company.  This is obviously not a priority because they don’t need to develop this feature.  Why is this?  Because they can continue to sell tests and to give shakey leaves to customers, most of whom don’t understand the subtle “untruth” inherent in that leaf match – so are quite blissfully happy.

In years past, I worked in the computer industry when IBM was the Big Dog against whom everyone else competed.  I’m reminded of an old joke.  The IBM sales rep got married, and on his wedding night, he sat on the edge of the bed all night long regaling his bride in glorious detail with stories about just how good it was going to be….

You can sign a petition asking Ancestry to provide a chromosome browser here, and you can submit your request directly to Ancestry as well, although to date, this has not been effective.

The most frustrating aspect of this situation is that Ancestry, with their plethora of trees, savvy marketing and captive audience testers really was positioned to “do it right,” and hasn’t, at least not yet.  They seem to be more interested in selling kits and providing shakey leaves that are misleading in terms of what they mean than providing true tools.  One wonders if they are afraid that their customers will be “less happy” when they discover the truth and not developing a chromosome browser is a way to keep their customers blissfully in the dark.

https://dna-explained.com/2013/03/21/downloading-ancestrys-autosomal-dna-raw-data-file/

https://dna-explained.com/2013/03/24/ancestry-needs-another-push-chromosome-browser/

https://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

http://www.thegeneticgenealogist.com/2013/06/21/new-search-features-at-ancestrydna-and-a-sneak-peek-at-new-ethnicity-estimates/

http://www.yourgeneticgenealogist.com/2013/03/ancestrydna-raw-data-and-rootstech.html

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://www.legalgenealogist.com/blog/2013/09/13/ancestrydna-begins-rollout-of-update/

Ancient DNA

This has been a huge year for advances in sequencing ancient DNA, something once thought unachievable.  We have learned a great deal, and there are many more skeletal remains just begging to be sequenced.  One absolutely fascinating find is that all people not African (and some who are African through backmigration) carry Neanderthal and Denisovan DNA.  Just this week, evidence of yet another archaic hominid line has been found in Neanderthal DNA and on Christmas Day, yet another article stating that type 2 Diabetes found in Native Americans has roots in their Neanderthal ancestors. Wow!

Closer to home, by several thousand years is the suggestion that haplogroup R did not exist in Europe after the ice age, and only later, replaced most of the population which, for males, appears to have been primarily haplogroup G.  It will be very interesting as the data bases of fully sequenced skeletons are built and compared.  The history of our ancestors is held in those precious bones.

https://dna-explained.com/2013/01/10/decoding-and-rethinking-neanderthals/

https://dna-explained.com/2013/07/04/ancient-dna-analysis-from-canada/

https://dna-explained.com/2013/07/10/5500-year-old-grandmother-found-using-dna/

https://dna-explained.com/2013/10/25/ancestor-of-native-americans-in-asia-was-30-western-eurasian/

https://dna-explained.com/2013/11/12/2013-family-tree-dna-conference-day-2/

https://dna-explained.com/2013/11/22/native-american-gene-flow-europe-asia-and-the-americas/

https://dna-explained.com/2013/12/05/400000-year-old-dna-from-spain-sequenced/

http://www.thegeneticgenealogist.com/2013/10/16/identifying-otzi-the-icemans-relatives/

http://cruwys.blogspot.com/2013/12/recordings-of-royal-societys-ancient.html

http://cruwys.blogspot.com/2013/02/richard-iii-king-is-found.html

https://dna-explained.com/2013/12/22/sequencing-of-neanderthal-toe-bone-reveals-unknown-hominin-line/

https://dna-explained.com/2013/12/26/native-americans-neanderthal-and-denisova-admixture/

http://dienekes.blogspot.com/2013/12/ancient-dna-what-2013-has-brought.html

Sloppy Science and Sensationalist Reporting

Unfortunately, as DNA becomes more mainstream, it becomes a target for both sloppy science or intentional misinterpretation, and possibly both.  Unfortunately, without academic publication, we can’t see results or have the sense of security that comes from the peer review process, so we don’t know if the science and conclusions stand up to muster.

The race to the buck in some instances is the catalyst for this. In other cases, and not in the links below, some people intentionally skew interpretations and results in order to either fulfill their own belief agenda or to sell “products and services” that invariably report specific findings.

It’s equally as unfortunate that much of these misconstrued and sensationalized results are coming from a testing company that goes by the names of BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. It certainly does nothing for their credibility in the eyes of people who are familiar with the topics at hand, but it does garner a lot of press and probably sells a lot of kits to the unwary.

I hope they publish their findings so we can remove the “sloppy science” aspect of this.  Sensationalist reporting, while irritating, can be dealt with if the science is sound.  However, until the results are published in a peer-reviewed academic journal, we have no way of knowing.

Thankfully, Debbie Kennett has been keeping her thumb on this situation, occurring primarily in the British Isles.

https://dna-explained.com/2013/08/24/you-might-be-a-pict-if/

http://cruwys.blogspot.com/2013/12/the-british-genetic-muddle-by-alistair.html

http://cruwys.blogspot.com/2013/12/setting-record-straight-about-sara.html

http://cruwys.blogspot.com/2013/09/private-eye-on-britainsdna.html

http://cruwys.blogspot.com/2013/07/private-eye-on-prince-williams-indian.html

http://cruwys.blogspot.com/2013/06/britainsdna-times-and-prince-william.html

http://cruwys.blogspot.com/2013/03/sense-about-genealogical-dna-testing.html

http://cruwys.blogspot.com/2013/03/sense-about-genetic-ancestry-testing.html

Citizen Science is Coming of Age

Citizen science has been slowing coming of age over the past few years.  By this, I mean when citizen scientists work as part of a team on a significant discovery or paper.  Bill Hurst comes to mind with his work with Dr. Doron Behar on his paper, A Copernican Reassessment of the Human Mitochondrial DNA from its Root or what know as the RSRS model.  As the years have progressed, more and more discoveries have been made or assisted by citizen scientists, sometimes through our projects and other times through individual research.  JOGG, the Journal of Genetic Genealogy, which is currently on hiatus waiting for Dr. Turi King, the new editor, to become available, was a great avenue for peer reviewed publication.  Recently, research projects have been set up by citizen scientists, sometimes crowd-funded, for specific areas of research.  This is a very new aspect to scientific research, and one not before utilized.

The first paper below includes the Family Tree DNA Lab, Thomas and Astrid Krahn, then with Family Tree DNA and Bonnie Schrack, genetic genealogist and citizen scientist, along with Dr. Michael Hammer from the University of Arizona and others.

https://dna-explained.com/2013/03/26/family-tree-dna-research-center-facilitates-discovery-of-ancient-root-to-y-tree/

https://dna-explained.com/2013/04/10/diy-dna-analysis-genomeweb-and-citizen-scientist-2-0/

https://dna-explained.com/2013/06/27/big-news-probable-native-american-haplogroup-breakthrough/

https://dna-explained.com/2013/07/22/citizen-science-strikes-again-this-time-in-cameroon/

https://dna-explained.com/2013/11/30/native-american-haplogroups-q-c-and-the-big-y-test/

http://www.yourgeneticgenealogist.com/2013/03/citizen-science-helps-to-rewrite-y.html

Ethnicity Makeovers – Still Not Soup

Unfortunately, ethnicity percentages, as provided by the major testing companies still disappoint more than thrill, at least for those who have either tested at more than one lab or who pretty well know their ethnicity via an extensive pedigree chart.

Ancestry.com is by far the worse example, swinging like a pendulum from one extreme to the other.  But I have to hand it to them, their marketing is amazing.  When I signed in, about to discover that my results had literally almost reversed, I was greeted with the banner “a new you.”  Yea, a new me, based on Ancestry’s erroneous interpretation.  And by reversed, I’m serious.  I went from 80% British Isles to 6% and then from 0% Western Europe to 79%. So now, I have an old wrong one and a new wrong one – and indeed they are very different.  Of course, neither one is correct…..but those are just pesky details…

23andMe updated their ethnicity product this year as well, and fine tuned it yet another time.  My results at 23andMe are relatively accurate.  I saw very little change, but others saw more.  Some were pleased, some not.

The bottom line is that ethnicity tools are not well understood by consumers in terms of the timeframe that is being revealed, and it’s not consistent between vendors, nor are the results.  In some cases, they are flat out wrong, as with Ancestry, and can be proven.  This does not engender a great deal of confidence.  I only view these results as “interesting” or utilize them in very specific situations and then only using the individual admixture tools at www.Gedmatch.com on individual chromosome segments.

As Judy Russell says, “it’s not soup yet.”  That doesn’t mean it’s not interesting though, so long as you understand the difference between interesting and gospel.

https://dna-explained.com/2013/08/05/autosomal-dna-ancient-ancestors-ethnicity-and-the-dandelion/

https://dna-explained.com/2013/10/04/ethnicity-results-true-or-not/

http://www.legalgenealogist.com/blog/2013/09/15/dna-disappointment/

http://cruwys.blogspot.com/2013/09/my-updated-ethnicity-results-from.html?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+Cruwysnews+%28Cruwys+news%29

https://dna-explained.com/2013/10/17/ancestrys-updated-v2-ethnicity-summary/

https://dna-explained.com/2013/10/19/determining-ethnicity-percentages/

http://www.thegeneticgenealogist.com/2013/09/12/ancestrydna-launches-new-ethnicity-estimate/

http://cruwys.blogspot.com/2013/12/a-first-look-at-chromo-2-all-my.html

Genetic Genealogy Education Goes Mainstream

With the explosion of genetic genealogy testing, as one might expect, the demand for education, and in particular, basic education has exploded as well.

I’ve written a 101 series, Kelly Wheaton wrote a series of lessons and CeCe Moore did as well.  Recently Family Tree DNA has also sponsored a series of free Webinars.  I know that at least one book is in process and very near publication, hopefully right after the first of the year.  We saw several conferences this year that provided a focus on Genetic Genealogy and I know several are planned for 2014.  Genetic genealogy is going mainstream!!!  Let’s hope that 2014 is equally as successful and that all these folks asking for training and education become avid genetic genealogists.

https://dna-explained.com/2013/08/10/ngs-series-on-dna-basics-all-4-parts/

https://sites.google.com/site/wheatonsurname/home

http://www.yourgeneticgenealogist.com/2012/08/getting-started-in-dna-testing-for.html

https://dna-explained.com/2013/12/17/free-webinars-from-family-tree-dna/

http://www.thegeneticgenealogist.com/2013/06/09/the-first-dna-day-at-the-southern-california-genealogy-society-jamboree/

http://www.yourgeneticgenealogist.com/2013/06/the-first-ever-independent-genetic.html

http://cruwys.blogspot.com/2013/10/genetic-genealogy-comes-to-ireland.html

http://cruwys.blogspot.com/2013/03/wdytya-live-day-3-part-2-new-ancient.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-day-3.html

http://cruwys.blogspot.com/2013/03/who-do-you-think-you-are-live-2013-days.html

http://genealem-geneticgenealogy.blogspot.com/2013/03/the-surnames-handbook-guide-to-family.html

http://www.isogg.org/wiki/Beginners%27_guides_to_genetic_genealogy

A Thank You in Closing

I want to close by taking a minute to thank the thousands of volunteers who make such a difference.  All of the project administrators at Family Tree DNA are volunteers, and according to their website, there are 7829 projects, all of which have at least one administrator, and many have multiple administrators.  In addition, everyone who answers questions on a list or board or on Facebook is a volunteer.  Many donate their time to coordinate events, groups, or moderate online facilities.  Many speak at events or for groups.  Many more write articles for publications from blogs to family newsletters.  Additionally, there are countless websites today that include DNA results…all created and run by volunteers, not the least of which is the ISOGG site with the invaluable ISOGG wiki.  Without our volunteer army, there would be no genetic genealogy community.  Thank you, one and all.

2013 has been a banner year, and 2014 holds a great deal of promise, even without any surprises.  And if there is one thing this industry is well known for….it’s surprises.  I can’t wait to see what 2014 has in store for us!!!  All I can say is hold on tight….

Cherokee Mother of John Red Bank Payne

John Red Bank Payne

There is nothing I love more than a happy ending.  Second to that perhaps is to know that my blog or work helped someone, and in particularly, helped someone document their Native heritage.  In doing so, this confirms and unveils one more of our elusive Native people in early records.

I recently received a lovely thank you note from Shawn Potter.  We had exchanged notes earlier, after I wrote “The Autosomal Me” series, about how to utilize small segments of Native American (and Asian) DNA to identify Native American lines and/or ancestors.  This technique is called Minority Admixture Mapping (MAP) and was set forth in detail in various articles in the series.

Shawn’s note said:  “I’ve been doing more work on this segment and others following your method since we exchanged notes.  I’m pretty sure I’ve found the source of this Native American DNA — an ancestor named John Red Bank Payne who lived in North Georgia in the late 18th and 19th centuries.  Many of his descendants believe on the basis of circumstantial evidence that his mother was Cherokee.  I’ve found 10 descendants from four separate lines that inherited matching Native American DNA, pointing to one of his parents as the source.”

Along with this note, Shawn attached a beautiful 65 page book he had written for his family members which did document the Native DNA, but in the context of his family history.  He included their family story, the tales, the genealogical research, the DNA evidence and finally, a chapter of relevant Cherokee history complete with maps of the area where his ancestors lived. It’s a beautiful example of how to present something like this for non-DNA people to understand.  In addition, it’s also a wonderful roadmap, a “how to” book for how to approach this subject from a DNA/historical/genealogical perspective.  As hard as it is for me to sometimes remember, DNA is just a tool to utilize in the bigger genealogy picture.

Shawn has been gracious enough to allow me to reprint some of his work here, so from this point on, I’ll be extracting from his document.  Furthermore, Elizabeth Shown Mills would be ecstatic, because Shawn has fully documented and sourced his document.  I am not including that information here, but I’m sure he would gladly share the document itself with any interested parties.  You can contact Shawn at shpxlcp@comcast.net.

From the book, “Cherokee Mother of John Red Bank Payne” by Shawn Potter and Lois Carol Potter:

Descendants of John Red Bank Payne describe his mother as Cherokee. Yet, until now, some have questioned the truth of this claim because genealogists have been unable to identify John’s mother in contemporary records. A recent discovery, however, reveals both John Red Bank Payne and his sister Nancy Payne inherited Native American DNA.

Considering information from contemporary records, clues from local tradition, John’s name itself, and now the revelation that John and his sister inherited Native American DNA, there seems to be sufficient evidence to say John Red Bank Payne’s mother truly was Cherokee. The following summary describes what we know about John, his family, and his Native American DNA.

John Red Bank Payne was born perhaps near present-day Canton, Cherokee County, Georgia, on January 24, 1754, married Ann Henslee in Caswell County, North Carolina, on March 5, 1779, and died in Carnesville, Franklin County, Georgia, on December 14, 1831.

John’s father, Thomas Payne, was born in Westmorland County, Virginia, about 1725, and owned property in Halifax and Pittsylvania counties, Virginia, as well as Wilkes County, North Carolina, and Franklin County, Georgia.  Several factors suggest Thomas travelled with his older brother, William, to North Georgia and beyond, engaging in the deerskin trade with the Cherokee Nation during the mid 1700s. Thomas Payne died probably in Franklin County, Georgia, after February 23, 1811.

Contemporary records reveal Thomas had four children (William, John, Nancy, and Abigail) by his first wife, and nine children (Thomas, Nathaniel, Moses, Champness, Shrewsbury, Zebediah, Poindexter, Ruth, and Cleveland) by his second wife Yanaka Ayers.  Thomas married Yanaka probably in Halifax County, Virginia, before September 20, 1760.

Local North Georgia tradition identifies the first wife of Thomas Payne as a Cherokee woman. Anna Belle Little Tabor, in History of Franklin County, Georgia, wrote that “Trader Payne” managed a trading post on Payne’s Creek, and “one of his descendants, an offspring of his Cherokee marriage, later married Moses Ayers whose descendants still live in the county.”

Descendants of John Red Bank Payne also cite his name Red Bank, recorded in his son’s family Bible, as evidence of his Cherokee heritage.  Before the American Revolution, British Americans rarely defied English legal prohibitions against giving a child more than one Christian name.  So, the very existence of John’s name Red Bank suggests non-English ethnicity. On the other hand, many people of mixed English-Cherokee heritage were known by their Cherokee name as well as their English first and last names during this period.

Furthermore, while the form of John’s middle name is unlike normal English names, Red Bank conforms perfectly to standard Cherokee names.  It also is interesting to note, Red Bank was the name of a Cherokee village located on the south side of Etowah River to the southwest of present-day Canton, Cherokee County, Georgia.

While some believe the above information from contemporary records and clues from local tradition, as well as John’s name Red Bank, constitute sufficient proof of John’s Cherokee heritage, recently discovered DNA evidence confirms at least one of John’s parents had Native American ancestry. Ten descendants of John Red Bank Payne and his sister Nancy Payne, representing four separate lineages, inherited six segments of Native American DNA on chromosomes 2, 3, 5, 8, 13, and 18 (see Figure 1 for the relationship between these descendants; Figures 2-7 for images of their shared Native American DNA; and https://dna-explained.com/2013/06/02/the-autosomal-me-summary-and-pdf-file/ for an explanation of this method of identifying Native American chromosomal segments).

Upon careful reflection, there seems sufficient reason to believe John Red Bank Payne’s mother truly was Cherokee.

Roberta’s note:  I have redacted the surnames of current testers.

Payne chart

Chromosome 2, Segment 154-161

In this segment, Bert P, Rosa P, Nataan S, Cynthia S, and Kendall S inherited matching Native American DNA described as Amerindian, Siberian, Southeast Asian, and Oceanian by the Eurogenes V2 K15 admixture tool, and as North Amerind, Mesoamerican, South America Amerind, Arctic Amerind, East Siberian, Paleo Siberian, Samoedic, and East South Asian by the Magnus Ducatus Lituaniae Project World22 admixture tool. Since their common ancestors were Thomas Payne and his wife, the source of this Native American DNA must be either Thomas Payne or his wife. See Figures 2a-2g.

Note: Since Native Americans and East Asians share common ancestors in the pre-historic past, their DNA is similar to each other in many respects. This similarity often causes admixture tools to interpret Native American DNA as various types of East Asian DNA. Therefore, the presence of multiple types of East Asian DNA together with Native American DNA tends to validate the presence of Native American DNA.

Payne graph 1

Payne graph 2

Payne graph 3

Payne graph 4

Payne graph 5

Roberta’s Summary:  Shawn continues to document the other chromosome matches in the same manner.  In total, he has 10 descendants of Thomas Payne and his wife, who it turns out, indeed was Cherokee, as proven by this exercise in combination with historical records.  These people descend through 2 different children.  Cynthia and Kendall descend through daughter Nancy Payne, and the rest of the descendants descend through different children of John Red Bank Payne.  All of the DNA segments that Shawn utilized in his report share Native/Asian segments in both of these family groups, the descendants of both Nancy and John Red Bank Payne.

Shawn’s success in this project hinged on two things.  First, being able to test multiple (in this case, two) descendants of the original couple.  Second, he tested several people and had the tenacity to pursue the existence of Native DNA segments utilizing the Minority Admixture Mapping (MAP) technique set forth in “The Autosomal Me” series.  It certainly paid off.  Shawn confirmed that the wife of Thomas Payne was, indeed Native, most likely Cherokee since he was a Cherokee trader, and that today’s descendants do indeed carry her heritage in their DNA.

Great job Shawn!!  Wouldn’t you love to be his family member and one of the recipients of these lovely books about your ancestor! Someone’s going to have a wonderful Christmas!

2013 Family Tree DNA Conference Day 1

This article is probably less polished than my normal articles.  I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write.  So you’re getting a spruced up version of my notes.  There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do.  Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry.  Max thought about this and said, really, not.  Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years.  The list included about 20 or so early adopters.  They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

Plaque Max and Me 2013

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators.  A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved.  When Max noted the admins who were leaders and are no longer with us, he could barely speak.  There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett remarks

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming.  Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time.  Her list of degrees would take a page or so.  She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card.  Then two months ago, Amy wound up sitting next to Max on another airplane.  It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers.  You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy?  How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here.  There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013.  I blogged about this at the time.

She spoke a bit about the history of this issue.

Mcguire

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA?  This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together.  Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor.  Is this a good thing or a bad thing?  Some feel that it’s unethical and an invasion of the privacy of the father.  But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved.  DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely.  Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907.  These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation.  “Three generations of imbeciles is enough.”  I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names.  The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived.  Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options.  53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release.  She notes that these were highly motivated people enrolled in a clinical study.  Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant.  Most people said they would participate if they were simply asked.  So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this.  I know several people who refused to participate in a research study because their results would not be returned to them personally.  All they wanted was information and to be treated respectfully.

What  the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well.  What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status.  It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA.  He has two children.  How does this affect his children?  Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information.  Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”.  Henrietta Lacks was a poor African-American woman with ovarian cancer.  At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research.  She was never informed or released anything, but then they were following the protocols of the time.  From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished.  The genome was eventually fully sequenced and published.  Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family?  And how does or should this affect policy?

How does this affect genetic genealogy?  Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics?  Should you have to talk to family members before anyone DNA tests?  Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy?  How about when the original tester dies?  Who has what rights and interests?  What about the unborn?  What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components.  Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over.  However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test.  Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved.  However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

Villars

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well.  This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents.  Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project.  More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years.  More than 360 ancient samples were collected across several different time periods.  There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially.  That’s for sure.  “We are reshaping the tree in an enormous way.”  What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year.  The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree.  Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.”  This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging.  I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA.  Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population.  This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America.  Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years.  Papers are coming within the next year about this.

They anticipate that interest will double within the next year.  They expect that based on recent discoveries, the 2015 Y tree will be much larger yet.  Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.”  The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science.  Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement.  He contacted his birth mother as an adult.  She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not.  Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’  With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4th grandparent by process of elimination.  While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA.    Here, Matt is discussing his children’s inheritance.

Matt dexter

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why.  Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous.  The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds.  Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue.  Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives.  This means that FTDNA’s Jewish “correction” seems to be working quite well.  Of course, they do have a great family group with which to calibrate their product.  Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish.  The non-Jewish group had almost exactly the opposite results.

  • Jewish people have from 1500-2100 matches.
  • Interfaith 700-1100 (Jewish and non)
  • NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project.  Jewish people match both Jewish and Interfaith families.  NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting.  This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried.  One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions.  Furthermore, the Jewish community has been endogamous longer than some of the other groups.  Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable.  I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central.  In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

 Estes Indian Princess photo

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held.  There were several topics.  Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended.  We had a wide range of expertise in the group and answered many questions.  One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well.  In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups.  This means they are listed on the “tree.”  So sometimes public and private can simply be a matter of timing and discovery.

FTDNA roundtable 2013

Here’s Bennett leading another roundtable discussion.

roundtable bennett

Session 7 – Dr. David Mittleman

Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur.  He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition.  He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology.  Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y.  It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well.  Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers.  This is not a test that a new customer would ever order.  The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

tech row

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit.  We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time.  We all bring food or drink and sometimes pitch in to rent the room.  We also spill out into the hallways where our impromptu “meetings” generally happen.  And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see.  Do we know how to party or what???

Here’s Linda Magellan working hard during the reception.  I think she’s ordering the Big Y actually.  We had several orders placed by admins during the conference.

Magellan

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

Determining Ethnicity Percentages

Recently, as a comment to one of my blog postings, someone asked how the testing companies can reach so far back in time and tell you about your ancestors.  Great question.

The tests that reliably reach the furthest back, of course, are the direct line Y-Line and mitochondrial DNA tests, but the commenter was really asking about the ethnicity predictions.  Those tests are known as BGA, or biogeographical ancestry tests, but most people just think of them or refer to them as the ethnicity tests.

Currently, Family Tree DNA, 23andMe and Ancestry.com all provide this function as a part of their autosomal product along with the Genographic 2.0 test.  In addition, third party tools available at www.gedmatch.com don’t provide testing, but allow you to expand what you can learn with their admixture tools if you upload your raw data files to their site.  I wrote about how to use these ethnicity tools in “The Autosomal Me” series.  I’ve also written about how accurate ethnicity predictions from testing companies are, or aren’t, here, here and here.

But today, I’d like to just briefly review the 3 steps in ethnicity prediction, and how those steps are accomplished.  It’s simple, really, in concept, but like everything else, the devil is in the details.devil

There are three fundamental steps.

  • Creation of the underlying population data base.
  • Individual DNA extraction.
  • Comparison to the underlying population data base.

Step 1:  Creation of the underlying population data base.

Don’t we wish this was as simple as it sounds.  It isn’t.  In fact, this step is the underpinnings of the accuracy of the ethnicity predictions.  The old GIGO (garbage in, garbage out) concept applies here.

How do researchers today obtain samples of what ancestral populations looked like, genetically?  Of course, the evident answer is through burials, but burials are not only few and far between, the DNA often does not amplify, or isn’t obtainable at all, and when it is, we really don’t have any way to know if we have a representative sample of the indigenous population (at that point in time) or a group of travelers passing through.  So, by and large, with few exceptions, ancient DNA isn’t a readily available option.

The second way to obtain this type of information is to sample current populations, preferably ones in isolated regions, not prone to in-movement, like small villages in mountain valleys, for example, that have been stable “forever.”  This is the approach the National Geographic Society takes and a good part of what the Genograpic Geno 2.0 project funding does.  Indigenous populations are in most cases our most reliable link to the past.  These resources, combined with what we know about population movement and history are very telling.  In fact, National Geographic included over 75,000 AIMs (Ancestrally Informative Markers) on the Geno 2.0 chip when it was released.

The third way to obtain this type of information is by inference.  Both Ancestry.com and 23andMe do some of this.  Ancestry released its V2 ethnicity updates this week, and as a part of that update, they included a white paper available to DNA participants.  In that paper, Ancestry discusses their process for utilizing contributed pedigree charts and states that, aside from immigrant locations, such as the United States and Canada, a common location for 4 grandparents is sufficient information to include that individuals DNA as “native” to that location.  Ancestry used 3000 samples in their new ethnicity predictions to cover 26 geographic locations.  That’s only 115 samples, on average, per location to represent all of that population.  That’s pretty slim pickins.  Their most highly represented area is Eastern Europe with 432 samples and the least represented is Mali with 16.  The regions they cover are shown below.

ancestry v2 8

Survey Monkey, a widely utilized web survey company, in their FAQ about Survey Size For Accuracy provides guidelines for obtaining a representative sample.  Take a look.  No matter which calculations you use relative to acceptable Margin of Error and Confidence Level, Ancestry’s sample size is extremely light.

23andMe states in their FAQ that their ethnicity prediction, called Ancestry Composition covers 22 reference populations and that they utilize public reference datasets in addition to their clients’ with known ancestry.

23andMe asks geographic ancestry questions of their customers in the “where are you from” survey, then incorporates the results of individuals with all 4 grandparents from a particular country.  One of the ways they utilize this data is to show you where on your chromosomes you match people whose 4 grandparents are from the same country.  In their tutorial, they do caution that just because a grandparent was born in a particular location doesn’t necessarily mean that they were originally from that location.  This is particularly true in the past few generations, since the industrial revolution.  However, it may still be a useful tool, when taken with the requisite grain of salt.

23andme 4 grandparents

The third way of creating the underlying population data base is to utilize academically published information or information otherwise available.  For example, the Human Genome Diversity Project (HGDP) information which represents 1050 individuals from 52 world populations is available for scrutiny.  Ancestry, in their paper, states that they utilized the HGDP data in addition to their own customer database as well as the Sorenson data, which they recently purchased.

Academically published articles are available as well.  Family Tree DNA utilizes 52 different populations in their reference data base.  They utilize published academic papers and the specific list is provided in their FAQ.

As you can see, there are different approaches and tools.  Depending on which of these tools are utilized, the underlying data base may look dramatically different, and the information held in the underlying data base will assuredly affect the results.

Step 2:  Your Individual DNA Extraction

This is actually the easy part – where you send your swab or spit off to the lab and have it processed.  All three of the main players utilize chip technology today.  For example, 23andMe focuses on and therefore utilizes medical SNPs, where Family Tree DNA actively avoids anything that reports medical information, and does not utilize those SNPs.

In Ancestry’s white paper, they provide an excellent graphic of how, at the molecular level, your DNA begins to provide information about the geographic location of your ancestors.  At each DNA location, or address, you have two alleles, one from each parent.  These alleles can have one of 4 values, or nucleotides, at each location, represented by the abbreviations T, A, C and G, short for Thymine, Adenine, Cytosine and Guanine.  Based on their values, and how frequently those values are found in comparison populations, we begin to fine correlations in geography, which takes us to the next step.

ancestry allele snps

Step 3:  Comparison to Underlying Population Data Base

Now that we have the two individual components in our recipe for ethnicity, a population reference set and your DNA results, we need to combine them.

After DNA extraction, your individual results are compared to the underlying data base.  Of course, the accuracy will depend on the quality, diversity, coverage and quantity of the underlying data base, and it will also depend on how many markers are being utilized or compared.

For example, Family Tree DNA utilizes about 295,000 out of 710,000 autosomal SNPs tested for ethnicity prediction.  Ancestry’s V1 product utilized about 30,000, but that has increased now to about 300,000 in the 2.0 version.

When comparing your alleles to the underlying data set one by one, patterns emerge, and it’s the patterns that are important.  To begin with, T, A, C and G are not absent entirely in any population, so looking at the results, it then becomes a statistics game.  This means that, as Ancestry’s graphic, above, shows, it becomes a matter of relativity (pardon the pun), and a matter of percentages.

For example, if the A allele above is shown is high frequencies in Eastern Europe, but in lower frequencies elsewhere, that’s good data, but may not by itself be relevant.  However if an entire segment of locations, like a street of DNA addresses, are found in high percentages in Eastern Europe, then that begins to be a pattern.  If you have several streets in the city of You that are from Eastern Europe, then that suggests strongly that some of your ancestors were from that region.

To show this in more detailed format, I’m shifting to the third party tool, GedMatch and one of their admixture tools.  I utilized this when writing the series, “The Autosomal Me” and in Part 2, “The Ancestor’s Speak,” I showed this example segment of DNA.

On the graph below, which is my chromosome painting of one a small part of one of my chromosomes on the top, and my mother’s showing the exact same segment on the bottom, the various types of ethnicity are colored, or painted.

The grid shows location, or address, 120 on the chromosome and each tick mark is another number, so 121, 122, etc.   It’s numbered so we can keep track of where we are on the chromosome.

You can readily see that both of us have a primary ethnicity of North European, shown by the teal.  This means that for this entire segment, the results are that our alleles are found in the highest frequencies in that region.

Gedmatch me mom

However, notice the South Asian, East Asian, Caucus, and North Amerindian. The important part to notice here, other than I didn’t inherit much of that segment at 123-127 from her, except for a small part of East Asian, is that these minority ethnicities tend to nest together.  Of course, this makes sense if you think about it.  Native Americans would carry Asian DNA, because that is where their ancestors lived.  By the same token, so would Germans and Polish people, given the history of invasion by the Mongols. Well, now, that’s kind of a monkey-wrench isn’t it???

This illustrates why the results may sometimes be confusing as well as how difficult it is to “identify” an ethnicity.  Furthermore, small segments such as this are often “not reported” by the testing companies because they fall under the “noise” threshold of between about 5 and 7cM, depending on the company, unless there are a lot of them and together they add up to be substantial.

In Summary

In an ideal world, we would have one resource that combines all of these tools.  Of course, these companies are “for profit,” except for National Geographic, and they are not going to be sharing their resources anytime soon.

I think it’s clear that the underlying data bases need to be expanded substantially.  The reliability of utilizing contributed pedigrees as representative of a population indigenous to an area is also questionable, especially pedigrees that only reach back two generations.

All of these tools are still in their infancy.  Both Ancestry and Family Tree DNA’s ethnicity tools are labeled as Beta.  There is useful information to be gleaned, but don’t take the results too seriously.  Look at them more as establishing a pattern.  If you want to take a deeper dive by utilizing your raw data and downloading it to GedMatch, you can certainly do so. The Autosomal Me series shows you how.

Just keep in mind that with ethnicity predictions, with all of the vendors, as is particularly evident when comparing results from multiple vendors, “your mileage may vary.”  Now you know why!

Ethnicity Results – True or Not?

I can’t even begin to tell you how many questions I receive that go something like this:

“I received my ethnicity results from XYZ.  I’m confused.  The results don’t seem to align with my research and I don’t know what to make of them?”

In the above question, the vendors who are currently offering these types of results among their autosomal tests are Family Tree DNA, 23andMe and Ancestry along with National Geographic who is a nonprofit.  Of those four, by far, Ancestry is the worst at results matching reality and who I receive the most complaints and comments about.  I wrote an article about Ancestry’s results and Judy Russell recently wrote an article about their new updated results as did Debbie Kennett.  My Ancestry results have not been updated yet, so I can’t comment personally.

Let’s take a look at the results from the four players and my own analysis.

Some years back, I did a pedigree analysis of my genealogy in an attempt to make sense of autosomal results from other companies.

The paper, “Revealing American Indian and Minority Heritage using Y-line, Mitochondrial, Autosomal and X Chromosomal Testing Data Combined with Pedigree Analysis” was published in the Fall 2010 issue of JoGG, Vol. 6 issue 1.

The pedigree analysis portion of this document begins about page 8.  My ancestral breakdown is as follows:

Geography Percent
Germany 23.8041
British Isles 22.6104
Holland 14.5511
European by DNA 6.8362
France 6.6113
Switzerland .7813
Native American .2933
Turkish .0031

This leaves about 25% unknown.  However, this looks nothing like the 80% British Isles and the 12% Scandinavian at Ancestry.

Here are my current ethnicity results from the three major testing companies plus Genographic.

Ancestry

80% British Isles

12% Scandinavian

8% Uncertain

Family Tree DNA

75% Western Europe

25% Europe – Romanian, Russian, Tuscan, Finnish

23andMe (Standard Estimate)

99.2% European

0.5% East Asian and Native American

0.3% Unassigned

Genographic 2.0

Northern European – 43%

Mediterranean – 36%

Southwest Asian – 18%

Why Don’t The Results Match?

Why don’t the results match either my work or each other?

1. The first answer I always think of when asked this question is that perhaps some of the genealogy is incorrect.  That is certainly a possibility via either poor genealogy research or undocumented adoptions.  However, as time has marched forward, I’ve proven that I’m descended from most of these lines through either Y-line, mitochondrial DNA or autosomal matches.  This confirms my genealogy research.  For example, Acadians were originally French and I definitely descend from Acadian lines.

2. The second answer is time.  The vendors may well be using different measures of time, meaning more recent versus deep ancestry.  Geno 2.0 looks back the furthest.  Their information says that “your percentages reflect both recent influences and ancient genetic patterns in your DNA due to migrations as groups from different regions mixed over thousands of years.  Your ancestors also mixed with ancient, now extinct hominid cousins like Neanderthals in Europe and the Middle East of the Denisovans in Asia.”

It’s difficult to determine which of the matching populations are more recent and which are less recent.  By way of example, many Germans and others in eastern Europe are descendants of Genghis Khan’s Mongols who invaded portions of Europe in the 13th century.  So, do we recognize and count their DNA when found as “German,” “Polish,” “Russian,” or “Asian?”  The map below shows the invasions of Genghis Khan.  Based on this, Germans who descend from Genghis’s Mongols could match Koreans on those segments of DNA. Both of those people would probably find that confusing.

genghis khan map

3. The third answer is the reference populations.  Here is what National Geographic has to say: “Modern day indigenous populations around the world carry particular blends of these regions. We compared your DNA results to the reference populations we currently have in our database and estimated which of these were most similar to you in terms of the genetic markers you carry. This doesn’t necessarily mean that you belong to these groups or are directly from these regions, but that these groups were a similar genetic match and can be used as a guide to help determine why you have a certain result. Remember, this is a mixture of both recent (past six generations) and ancient patterns established over thousands of years, so you may see surprising regional percentages.”

Each of the vendors has compiled their own list of reference populations from published material, and in the case of National Geographic, as yet unpublished material as well.

If you read the fine print, some of these results that at first glance appear to not match actually do, or could.  For example, Southwest Asia (Geno 2.0) could be Russia (Family Tree DNA) or at least pointing to the same genetic base.

This video map of Europe through the ages from 1000AD to present will show the ever changing country boundaries and will quickly explain why coming up with labels for ethnicity is so difficult.  I mean, what exactly does “France” or “Germany” mean, and when?

4. The fourth answer is focus.  Each of these organizations comes to us as a consumer with a particular focus.  Of them, one and only one must make their way on their own merits alone.  That one is Family Tree DNA.  Unlike the Genographic Project, Family Tree DNA doesn’t have a large nonprofit behind them.  Unlike 23andMe, they are not subsidized by the medical community and venture capital.  And unlike Ancestry.com, Family Tree DNA is not interested in selling you a subscription.  In fact, the DNA market could dry up and go away for any of those three, meaning 23andMe, National Geographic and Ancestry, and their business would simply continue with their other products.  To them, DNA testing is only a blip on a spreadsheet.  Not true for Family Tree DNA.  Their business IS genetic genealogy and DNA testing.  So of all these vendors, they can least afford to have upset clients and are therefore the most likely to be the most vigilant about the accuracy of their testing, the quality of the tools and results provided to customers.

My Opinion

So what is my personal opinion on all of this?

I think these ethnicity results are very interesting.  I think in some way all of them are probably correct, excluding Ancestry.  I have absolutely no confidence in Ancestry’s results based on their track record and historylack of tools, lack of transparency and frustratingly poor quality.

I think that as more academic papers are published and we learn more about these reference populations and where their genes are found in various populations, all of these organizations will have an opportunity to “tighten up” their results.  If you’ll notice, both Ancestry and Family Tree DNA still include the words “beta.”  The vendors know that these results are not the end all and be all in the ethnicity world.

Am I upset with these vendors?  Aside from Ancestry who has to know they have a significant problem and has yet to admit to or fix it, no, I’m not.  Frustrated, as a consumer, yes, because like all genealogists, I want it NOW please and thank you!!!

Without these kinds of baby steps, we will never as a community crawl, walk, or run.  I dream of the day when we will be able to be tested, obtain our results, and along with that, maybe a list of ancestors we descend from and where their ancestors originated as well.  So, in essence, current genealogy (today Y-line and mtdna), older genealogy (autosomal lines) and population genetics (ethnicity of each line).

So what should we as consumers do today?  Personally, I think we should file this information away in the “that’s interesting” folder and use it when and where it benefits us.  I think we should look at it as a display of possibilities.  We should not over-interpret these results.

There is perhaps one area of exception, and that is when dealing with majority ethnic groups.  By this, I mean African, Asian, Native American and European.  For those groups, this type of ethnicity breakdown, the presence or absence of a particular group is more correct than incorrect, generally.  Very small amounts of any admixture are difficult to discern for any vendor.  For an example of that, look at my Native percentages and some of those are proven lines.  For the individual who wants more information, and more detail into the possibilities, I wrote about how to use the raw autosomal data outside of the vendors tools, at GedMatch, to sort out minority admixture in The Autosomal Me series.

Perhaps the Genographic Project page sums it up best with their statement that, “If you have a very mixed background, the pattern can get complicated quickly!”  Not only is that true, it can be complicated by any and probably all of the factors above.  When you think about it, it’s rather amazing that we can tell as much as we can.

The Autosomal Me – Summary and PDF File

“The Autosomal Me” is a 9 part series published between February 6, 2013 and May 31, 2013 on the blog, www.dna-explained.com.  I’ve been asked to do a couple of things.  First, to put together a document that has all of the links in one place, and second, to create a pdf file of the compiled articles for download.

The second part turned out to be easier than I anticipated.  One of my readers also saw that request and put together the pdf file, which I’ve uploaded to my website at www.dnaexplain.com and is now available (free) with lots of other good things under the Publications tab.  Very big hat tip to John for doing this.  Thank you so much!

Here’s the list of articles from first to last with their links:

Part 1 was “The Autosomal Me – Unraveling Minority Admixture” and Part 2 was “The Autosomal Me – The Ancestors Speak.”  Part 1 discussed the technique we are going to use to unravel minority ancestry, and why it works.  Part two gave an example of the power of fragmented chromosomal mapping and the beauty of the results.

Part 3, “The Autosomal Me – Who Am I?,” reviewed using our pedigree charts to gauge expected results and how autosomal results are put into population buckets.

Part 4, “The Autosomal Me – Testing Company Results,” shows what to expect from all of the major testing companies, past and present, along with Dr. Doug McDonald’s analysis.

In Part 5, “The Autosomal Me – Rooting Around in the Weeds Using Third Party Tools,” we looked at 5 different third party tools and what they can tell us about our minority admixture that is not reported by the major testing companies because the segments are too small and fragmented.

In Part 6, “The Autosomal Me – DNA Analysis – Splitting Up” we began the analysis part of the data we’ve been gathering.   We looked at how to determine whether minority admixture on specific chromosomes came from which parent.

Part 7, “The Autosomal Me – Start, Stop, Go – Identifying Native Chromosomal Segments” took a deeper dive and focused on the two chromosomes with proven Native heritage and began by comparing those chromosome segments using the 4 GedMatch admixture tools.

Part 8, “The Autosomal Me – Extracting Data Segments and Clustering,” we  extract all of the Native and Blended Asian segments in all 22 chromosomes, but only used chromosomes 1 and 2 for illustration purposes.  We then clustered the resulting data to look for trends, grouping clusters by either the Strong Native criteria or the Blended Asian criteria.

The final segment, Part 9, “The Autosomal Me – The Holy Grail – Identifying Native Genealogy Lines,” utilized all of the chromosomal information we’ve gathered in the earlier steps.  We apply that information to our matches and determine which of our lines are the most likely to have Native Ancestry.  This, of course, fulfills the goal of using DNA information to identify small amounts of minority admixture.

In summary, this series has been quite interesting and indeed, it did achieve the goals initially set forth.  However, it was very manually intensive and took far longer than anticipated, partly due to circumstances beyond my control, like software updates and vendor changes.  A second reason that it took longer than expected was due to the sheer amount of work involved in the various steps, particularly steps 8 and 9.  In addition, because Minority Admixture Mapping (MAP) is developmental, I had to try several different approaches to determine which one, or ones, worked best.  Despite the immense amount of work, I would describe this approach certainly as useful and successful.  In fact, I don’t know how else I would have ever eliminated some genealogical lines as candidates for Native heritage and focused on others without the combination of MAP’s new techniques combined with both old and new tools provided by others.

Having said that, I would suggest that this technique, because of the intensive manual effort required, is only for the very committed genetic genealogist – the warrior, so to speak.  It also will not work well with only a few matches.  I would suggest that you would need at least 200 or 300 matches, preferably more, which is typical of someone with colonial American heritage.  If that is you, and you are desperate to find your minority admixed lines….then this type of project may be for you.  Please thoroughly read all 9 articles before beginning.

Many of the techniques in the various steps can be utilized individually, without completing the entire MAP process.  For example, comparing vendor and third party results, using the GedMatch admixture tools and the chromosome comparisons for percentages of ethnicity all provide useful information in their own right, outside of the full MAP process.

Bon voyage on your journey of discovery to find “The Autosomal You”!  Your ancestors are the pot of gold at the end of that rainbow.