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Mutect multi-sample calling #4887
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Keep me updated. I think a multi-sample version of ModelSegments would be pretty easy to implement and would hopefully share a similar command-line scheme for specifying allelic-count and denoised-copy-ratio files for the normal/tumors. Something to think about is that the modeling step probably can be done on a per-sample basis after multi-sample segmentation, and it would be nice to scatter per sample for WGS. There are probably a few ways we can implement this, but let me know if you're planning something similar for M2. |
I am very interested in this feature. In my current workflow I am using P.s. personally more interested in a multi-step mutation calling method than multi-sample calling, where one first calls mutation in multiple samples that are then joined together in a consensus callset, after which the consensus callset is queried individually across the entire cohort of patient resulting in genotype and allele frequencies for each variant across the entire cohort |
Since we're using Mutect2 for our mitochondrial variant calling pipeline that's in development, and we want to joint call mitochondria, I'm working on "somatic joint calling". It won't have a joint likelihood model (yet?) the way that germline SNP and indel joint calling does, but it will be able to give you a "squared-off" matrix of calls for each sample at each site that's variant in any sample. |
Closed by #5560. |
That is, multiple samples of the same tumor in space or time, a tumor and a metastasis, a tumor and its cfDNA etc.
First we have to ask collaborators and the community what features they would like and what problems they want to solve.
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