User: scrap

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Comment: C: [GNOMAD v2]How to count the number of heterozygous individuals
... I think it is because `nhomalt` is the number of individuals homozygous for the *alternate allele*. `AN/2` = total number of individuals, but that includes individuals homozygous for the reference allele, heterozygotes, and individuals homozygous for the alternate allele (`nhomalt`). So, `AN/2 - nh ...
written 7 weeks ago by scrap0
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Answer: A: [GNOMAD v2]How to count the number of heterozygous individuals
... For non-sex chromosome (and female Y chrom) variants I think the correct calculation for number of heterozygous individuals would be `AC - (2 x nhomalt)`. Each homozygous individual contributes 2 alternate alleles to the allele count (AC), so all remaining AC must come from heterozygous individuals ...
written 9 weeks ago by scrap0

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