What are F2 variants?
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9.9 years ago
kautilya ▴ 430

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.

SNP ngs • 3.1k views
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9.9 years ago
Emily 23k

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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Thanks. I now understand the context for f2 variants.

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