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@fernanda-rodrigues fernanda-rodrigues released this 30 Sep 23:48
· 194 commits to master since this release
v0.5.3
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Bug fixes in parsing of ClinVar information

Changes include:

  • Fixed parseMacPathogenicity() to handle variants with multiple submitters that received both benign and pathogenic classifications, but no conflict is reported (i.e. isPathogenic == 1 and isBenign == 1 and isConflicted == 0)

  • Fixed bug reported in pull request #19: var.splitHGVSc, which doesn't consider strand information. When override = True, the ref and alt for genomic variants would be wrongly changed for minus strand transcripts. Changed to override = False

  • Fixed bug reported in pull request #19: fixed corrdinates in getMacClinVarTSV() to match readVCF().

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