Closed:Mutect2 filtering log-odds (LOD) threshold
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6.1 years ago
CY ▴ 750

I was trying mutect2 to call somatic variant and found out that, by default, it uses 6.3 as tumor log odds (LOD) filtering cutoff. The formula is:

"Assuming somatic mutations to occur at a rate of ~1 per Mb. Therefore, LOD_T > log_{10} (0.5 \times 10^{-6} ) \approx 6.3 $$, which guarantees that our false positive rate, due to noise in the tumor, is less than half of the somatic mutation rate"

Here is the GATK link https://gatkforums.broadinstitute.org/gatk/discussion/4463/how-mutect-identifies-candidate-somatic-mutations

It seems to me the tumor mutation frequency is too arbitrary. The mutation frequency varies between different cancer type by two magnitude.

Does this make sense? Or I misunderstood it?

gatk mutect • 3.2k views
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