Allele frequency ExAC database

Question

[kiruphagaran]

Hi all,

I have a doubt regarding the ExAC database about the allele frequency. For some variants the allele frequency is over 50 %. How to interpret it. Does it mean that it is more frequent than the wild-type?

Thank you Regards kiruphagaran

Answer 1

[WouterDeCoster]

I answered this question here: C: Exome Aggregation Consortium (ExAC) dataset

"Wild-type" isn't the correct term in (human) population genetics. I'd say every one of us is equally wild regardless of presence or absence of rare variants. The correct term and way of viewing this would be "reference allele", meaning the allele which was found when constructing the human reference genome (using a few donors - not one sample). Therefore, it's very well possible (and indeed happens as you see) that the reference allele isn't the major allele.

Answer 2

[enigma.violet]

This is an interesting piece of information. Population centric frequency of such allele frequency over 50% should be analyzed for their implications (if any)