Hi folks,

There's been mention of the University of Strathclyde's SNP Progenitor project. The purpose of this is to collect together a list of people who we know were the first carriers of a SNP - i.e., their father was negative but at least two of their sons are positive. The submission form is here:

https://r1.dotdigital-pages.com/p/2P47-AJO/university-of-strathclyde-snp-progenitor-submission-form

While the University of Strathclyde's research is typically focussed towards their own home ground in Scotland, this submission is open to anyone.

Simultaneously, I am collecting data together for a slightly wider study along similar principles. This is to collect together any circumstances in which we know the most-recent common ancestor (MRCA) of a haplogroup - i.e., two people have taken a BigY (or similar next-generation sequencing) test and know who their most-recent common ancestor is. Note that this data is immediately public, as you can see from the examples already input. The submission is here:

https://docs.google.com/spreadsheets/d/1HsKUctbD7H8POCqpMZldoXUdVvYSQdtL8bEMWkJT8k0/edit?usp=sharing

An important use of both studies is to examine the mutation rate in these tests. We are used to assuming a flat 83 years/SNP for BigY-700 (or an appropriate scaling based on test length). However, this figure comes with a 10-15% uncertainty. We also know that it is fairly constant across all haplogroups, geographies and times at the ~15% level, and these data can either highlight dependencies on these parameters, or add further confidence that the mutation rate is constant. We can also use these data to identify the false-positive rate of SNPs in tests, and STRs if these are also uploaded to the Warehouse. Hence, if you are in possession of such data, I would strongly advise you to upload it the relevant VCF (or BAM) and STR files to the Warehouse and fill one or both of these forms as appropriate.

Cheers,

Iain.