What’s Coming Down the Pike: Family Tree DNA

The genetic genealogy testing companies were out in force at the i4GG conference this past weekend in San Diego! Representatives from Living DNA and MyHeritage gave hour-long talks on Saturday, and people from Family Tree DNA, AncestryDNA, and 23andMe spoke on Sunday.

They all gave polished and informative presentations, and I made a point to see them all so that I could report back to my readers. This is the third in a series of five (in the order of the original presentations) on what they had to say.

What’s New at Family Tree DNA?

Jim Brewster, Group Projects Assistant Manager at Family Tree DNA

I gotta say this right off the bat: Jim Brewster is a really engaging speaker. He’s knowledgable and funny, and he took it in stride when technical difficulties caused his presentation to disappear from the screen mid-sentence.

He began by describing some of the advances over the past decade in FTDNA’s lab in terms of instrumentation, work space, and staff. An Illumina NovaSeq sequencing machine has significantly increased their throughput, and a new style of cheek swabs allows automation, reducing errors and freeing the staff for other tasks. (If you still have the old-style swabs lying around, don’t worry. The lab can handle them manually.) Their new cryogenic storage unit can store 2.3 million samples; it was so large they needed to remove a window of the building and lift it to the 8th floor lab with a crane.

The bulk of the talk was devoted to advances in Y-DNA, especially the next-generation sequencing Big Y test. He talked briefly about the switch to Build 17 for the mitochondrial DNA haplotree, and autosomal DNA wasn’t mentioned at all.

As more and more men do the Big Y test, new SNPs are being discovered that allow better resolution of the yDNA haplotree. There were 3,610 SNPs on the yDNA haplotree when the Big Y test was introduced in 2013; there are 58,590 today! These new SNPs allow better resolution of the haplotree, meaning that relationships among different branches can be distinguished when previously they could not be, The tree has grown incredibly in size, as evidenced by the pages and pages … and pages … and many more pages it takes to display it now. FTDNA encourages Big Y testers to self-report SNPs that have potential to define new clades.

A new project at FTDNA is “Y-500”. FTDNA currently has 3,658 samples with both Big Y and Y-111 data. Seventy-two of the STRs in the Y-111 set are read by the Big Y method, allowing FTDNA to gauge how consistently next-generation sequencing can return STR data. FTDNA found 1,054 STRs that were polymorphic (variable) and that were found consistently across Big Y tests for different men. Of those, about 450 could be replicated across different sequencing platforms, meaning that next-gen sequencing was pretty reliable for them. After additional screening, FTDNA is settling on a set of 389 STRs that, when combined with the Y-111 test, will yield a set of 500 STRs, the so-called Y-500. (Some men will get more than 500.)

(As an aside, I suspect that the free upgrades to Y-111 with a purchase of Big Y during the holiday sale and the steep discounts on Y-111 for men who have already done Big Y are meant to generate more data for this project.)

I’m not really sure what we’re going to do with 500 STRs, but I trust that the innovators on FTDNA’s staff and among their customer base will find novel uses for the information.