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Disambiguation between allelic fraction and allele frequency #181

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chabriera opened this issue Jun 20, 2018 · 9 comments
Open

Disambiguation between allelic fraction and allele frequency #181

chabriera opened this issue Jun 20, 2018 · 9 comments

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@chabriera
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Could you please find alternate name shortenings for allelic fraction and allele frequency instead of AF for both?
Thanks :)

@tdelhomme
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What about MAF (minor allele frequency) instead of allele frequency?

@mfoll
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mfoll commented Jun 20, 2018

MAF is a good idea only if we report the minor allele frequency:

the frequency at which the second most common allele occurs in a given population

@mfoll
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mfoll commented Jun 20, 2018

I like VAF for the allelic fraction

@mfoll mfoll added this to the v1.1 milestone Jun 20, 2018
@mfoll
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mfoll commented Jun 20, 2018

AAF for "alternate allele frequency"?

@tdelhomme
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Yes I like also VAF for individual allelic fraction.

@mfoll
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mfoll commented Jun 20, 2018

VCF specification has a reserved INFO/AF field:

AF : allele frequency for each ALT allele in the same order as listed: use this when estimated from primary data, not called genotypes

But we estimate it from called genotypes, so AF is not good.

@mfoll
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mfoll commented Jun 20, 2018

Actually what we call INFO/AF at the moment is not the allele frequency but the frequency of samples being 0/1 or 1/1: https://github.com/IARCbioinfo/needlestack/blob/v1.1b/bin/needlestack.r#L397

@tdelhomme
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VF for variant frequency?

@tdelhomme
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Does GATK not respect the VCF specification? https://gatkforums.broadinstitute.org/gatk/discussion/6202/vcf-file-and-allele-frequency

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