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joint caller: output phasing information #389

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timodonnell opened this issue Feb 29, 2016 · 1 comment
Open

joint caller: output phasing information #389

timodonnell opened this issue Feb 29, 2016 · 1 comment
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@timodonnell
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The joint caller should optionally output a csv file that gives for pairs A, B of variants (both germline and somatic) at each sample:

  • total number of fragments (i.e. reads or mates of reads) overlapping both sites
  • total number of fragments overlapping both and supporting either the variant or reference alleles at both sites (i.e. excluding reads supporting a third alternate)
  • number of fragments supporting:
    • variant allele for A and reference allele of B
    • reference allele for A and variant allele of B
    • variant alleles for both A and B

One possible application for this data is to contrain phylogeny inference: if all the reads supporting variant A also support variant B, then mutation A probably occurred after B

@JPFinnigan
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It might be useful to also implement this logic in varcode/topiary. Presumably, one would want downstream tools to be aware of the presence and relative strandedness of secondary germline/somatic variants w/in a particular genomic distance (e.g. the length of a PGV peptide, to pick a specific example)

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