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--altMAF required to get correct allele frequency #25

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welchr opened this issue Mar 16, 2020 · 1 comment
Open

--altMAF required to get correct allele frequency #25

welchr opened this issue Mar 16, 2020 · 1 comment

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@welchr
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welchr commented Mar 16, 2020

We need to include the —altMAF flag to get allele frequencies calculated on only files contributing the variant (i.e., not assuming MAC=0 for studies without the variant in the file). This is quite different than one would expect for default operation.

@welchr welchr added this to the 4.16.0 milestone Mar 17, 2020
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welchr commented May 9, 2020

This seems to be intentional behavior on the part of the original authors. From the wiki:

In a single study of sample size N, if a site is monomorphic or not reported in vcf/ped, it is considered that the sample size of this study is not large enough to sample the rare allele. Thus, this study contributes 2*N reference alleles and 0 alternative allele towards meta-analysis. To let such studies contribute no alleles towards pooled allele frequency, specify --altMAF.

I think changing how this works now would end up making a backward incompatible change to the program, so this maybe would be better for a future 5.0.0 release.

@welchr welchr removed this from the 4.16.0 milestone May 9, 2020
@welchr welchr removed the type: bug label May 9, 2020
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