The 1000 genomes research article studies f2 variants. They refer to these as
Variants present twice across the entire sample (referred to as f2 variants), typically the most recent of informative mutations, are found within the same population in 53% of cases
Can anybody please elaborate/explain as to what are these f2 variants?
I am confused as to are these variants - ones with the variant allele is present on both the chromosomes at the same locus(Homozygous alternate) or something else.
1 answer
Found in more than one individual. If we find it in one individual then it might be a sequencing error or a mutation (somatic or germline) particular to that individual. If we find it in two or more, particularly if those two are from the same population, then we consider that those are low frequency variants from that population.
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