Family Tree DNA have just announced at their conference the introduction of a new Y-chromosome DNA test to be known as the Big Y. The new test uses next generation sequencing technology which is much more reliable than the chip testing used for the Geno 2.0 test from the Genographic Project and the Chromo 2 test from BritainsDNA. The Big Y is intended as a replacement for the Walk through the Y test which used the slower and much more expensive Sanger sequencing technology.
The Big Y test covers 10 million base pairs. It will provide results for almost 25,000 of the known Y-SNPs. However the exciting part is that this test can also be used for SNP discovery, opening up the tantalising possibility of finding SNPs that will prove to be unique to a particular surname lineage or an individual branch of a family tree.
The introductory price of the new test is $499 (£311). The selling price from 1st December will be $695 (£434). The test currently only seems to be available to existing customers, but it may that the FTDNA home page hasn’t yet been updated. There is now a new splash page on the personal pages of male FTDNA customers.
At Arpeggi they built a platform that will put the information back together not only quickly, but accurately. A tool can be found online at www.bioplanet.com/gcat. They also teamed up with the National Institute of Standards and Measurements and using a truth set, they were able to start ranking tools.
What does this mean for genealogy and YOU?
It mean’s a lot! If you give them six months they’ll come up with even more ideas but for today, there is a case study: Querying SNPs on the Y chromosome. Y-SNP testing from the YCC2010 tree or user requests are done for $39 per SNP. NatGeo Array-based Y-SNP testing that covers 10-12k SNPs for $100. WTY testing that covers 300,000 Y positions was $950 to $1500 but this is no longer offered.
With next-gen sequencing, can we reconstruct a big chunk of the Y? How much can we get? They did experiments with their friends at Illumina and got 10 million positions on the Y chromosome with nearly 25,000 known SNPs.
Available TODAY: BIG Y DNA Test Next Gen Y Sequencing. This is comprehensive sequencing of the Y. Existing Y-DNA customers can order today and get a $200 discount off of the regular price of $695 for $495.
And from the Autosomal Analysis presentation
Matt likes to think of the autosomal test as two tests, one for each side. Matt explained that we start as diploid zygotes that start from haploid gametes.
Matt talked about whether two people are related if they overlap. The answer depends on whether they connect on your maternal or paternal side. Even if segments overlap, if they don’t match each other, they are not related to each other. If they overlap and they are connected to the same parent, then they are related to each other. Matt showed an example where the parent and child matched to the grandchild. Some matches can be a match from both the maternal and the paternal side. You have to look at other relatives and other information to find out which person is mapping to that chromosome.
Matt gave an explanation of inheritance. He showed a creative example of pouring orange juice from two glasses into one glass. Each of the original glasses still had 50% still there that was not contributed. If you compare your data to each side, that is called phasing your data.
Matt pointed out that sometime you find a lot of matches because one branch had many children and another reason could be variation. Children inherit 50% from each parent but when it gets to the grandparent level, which 50% is passed on is not necessarily a clear division from each grandparent.