Big-Y SNP mutation rates

[wkauffman]

I have reviewed two Big-Y results for individuals who are part of the same family cluster. The European paper relationship between them has not been established. Each of their lines is documented for 8 generations back to their colonial period immigrant. Each of them have 5 novel (both high and medium qualify) SNPs that the other does not. This number of SNPs/generation seems to be a lot higher than what was previously estimated.

Note that once the raw data becomes available a search will be made for novel INDELs specific to each line.

[Stephen Parrish]

I have reviewed two Big-Y results for individuals who are part of the same family cluster. The European paper relationship between them has not been established. Each of their lines is documented for 8 generations back to their colonial period immigrant. Each of them have 5 novel (both high and medium qualify) SNPs that the other does not. This number of SNPs/generation seems to be a lot higher than what was previously estimated.

Note that once the raw data becomes available a search will be made for novel INDELs specific to each line.

Please tell me this: what is your terminal SNP?

Stephen

[wkauffman]

Please tell me this: what is your terminal SNP?

Stephen

These samples establish a new haplogroup that may be called R1b-L259. This is a brother clade to R1b-L48 under U106. We will wait for a pending Big-Y result to see if there are any additional SNPs to be added to the 4 equivalent ones currently defined by L259.

The samples paper trails go back into the 1690-1710 time frame.

[GST]

Each of them have 5 novel (both high and medium qualify) SNPs that the other does not. This number of SNPs/generation seems to be a lot higher than what was previously estimated.

In the FGC Full Y samples there have been estimates of about 1 SNP in 3 generations, and I think this was based on high quality SNPs, though I'm not certain of this. If that is the case, the number of SNPs/generation might be roughly consistent with the Full Y results.

[Rebekah Canada]

In the FGC Full Y samples there have been estimates of about 1 SNP in 3 generations, and I think this was based on high quality SNPs, though I'm not certain of this. If that is the case, the number of SNPs/generation might be roughly consistent with the Full Y results.

Hello,

What does FGC call a high quality SNP call?

[wkauffman]

Hello,

What does FGC call a high quality SNP call?

I'll let Greg M. provide that technical answer. There are a handful of FGC individuals who have also ordered Big-Y. I hope that some of those Big-Y results will be run through the FGC analysis pipeline so that we can better understand the the correlation between the quality levels of the calls. Are the Big-Y 'medium' really relevant?

[Rebekah Canada]

Hi,

Yes. I am under embargo until Dr. David Middelman publishes a method whitepaper. However, we are only releasing what we consider quality results.

...Are the Big-Y 'medium' really relevant?