Today, I received a notification from Family Tree DNA (for group administrators) about some significant and very welcome changes to the Big Y test results.
The Big Y test, launched in November 2013, is a test for men who have already taken the regular Y DNA 37, 67 or 111 marker tests and want to refine their haplogroup further, or contribute to the building of the Y haplotree, or both. The Big Y test scans the entire Y chromosome for mutations, known as SNPs, which finds mutations on the Y chromosome that define branches of the paternal line of humanity. Some of these SNPs are already known, but some may be new, scientific discoveries found in your own DNA.
There’s lots to learn from Big Y testing, especially in conjunction with other testers through matching and haplogroup projects. The Big Y test has been responsible for taking the Y tree from hundreds of branches to tens of thousands that each tell a story of a branch or twig of mankind. That branch just happens to be yours and the people you match on that branch share a similar history.
In order to discern as much as possible, I have tested at least one man in each of my family lines for the Big Y. In the Estes line, I used the Big Y to shed light on a long-standing family story that probably isn’t true. The Big Y from my Lentz line produced very surprising results, matching an ancient burial along the Volga River from the Yamnaya culture. You can read more about that here. This just goes to show that you don’t know what you don’t know until you test.
The Big Y test, a deep dive into your haplogroup history, combined with the STR 37, 67 or 111 STR marker tests provide you with the most information you can obtain from Y DNA. The STR panels are focused on mutations that happen more frequently, so are relevant to genealogy in the past 500-800 years while the SNPs that define haplogroup branches happen less frequently, are viewed as “once in the lifetime of mankind” types of events, and speak to our older history, typically before the advent of surnames. Having just said that, I’ll also add that newer SNPs are being found that have occurred in a genealogical time frame and that do sometimes differentiate different lines of a family.
Big Y testers must first have tested to at least the 37 marker level, so the Big Y cannot be ordered without first ordering (or upgrading to) at least the 37 marker test.
Here’s what Family Tree DNA has to say about the new release:
Dear Group Administrators,
We’re releasing a big update to Big Y on October 10th and want to give you a first look before the release goes live.
Once the release is live, we will be recalculating Big Y matches. We anticipate this to take approximately 5-7 days. During this time, you will see a “Results Pending” page when you click on the Big Y section. You will be notified by email once your results are processed and ready.
Once the transition is complete, we will update you as to when BAM files will be available.
Here’s the breakdown of what we added and how it all works
Human Genome 38
We’ve updated from hg19 to hg38. This is a more accurate representation of the human genome and is the most recent version referenced by the human genome community.
Some of the advantages of hg38 are:
- Better mapping of NGS data to the proper location
- Consideration of alternative haplotypes across the genome
For more information about human genome builds, click here.
Terminal SNP Guide
We’ve added a terminal SNP Guide that allows you to view and filter the branches closest to the tester’s terminal branch on the haplotree.
BIG Y Browser
We’re giving you the ability to view your SNP data from Big Y. This will allow you to personally assess all SNP call positions that are being evaluated for matching purposes. This data will be continuously updated.
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