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Mutect isActive loses sensitivity when allele fraction is comparable to base error rate #4816

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davidbenjamin opened this issue May 25, 2018 · 2 comments
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@davidbenjamin
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If you look at the approximation going from equation 34 to 35 in https://github.com/broadinstitute/gatk/blob/master/docs/mutect/mutect.pdf you will find that we replace f(1 - e) + (1 - f)e by just f(1 - e), where f is the allele fraction and e is the error rate. When f is much bigger than e this is okay but when they are comparable (consider mitochondrial or cfDNA calling with f = 1% and base qualities of 25) the approximation breaks down and we significantly underestimate the log odds, thereby failing to consider a region active.

This must be fixed!

@meganshand

@meganshand
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@fleharty This might be of interest.

@davidbenjamin
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Closed by #4832.

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