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Fix bug #19

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Fix bug #19

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icebert
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@icebert icebert commented Apr 17, 2019

  1. minPathogenicScore could be equal.

  2. var.splitHGVSc doesn't consider strand information. When override = True, the ref and alt for genomic variants would be wrongly changed for minus strand transcripts.

mmoisse added a commit to mmoisse/CharGer that referenced this pull request Jun 25, 2019
@rmashl rmashl self-assigned this Jul 16, 2019
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HGVSc change does not seem to have any effect... need to further evaluate

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icebert commented Aug 16, 2019

If override = True, the ref and alt for genomic variants would be wrongly changed for minus strand transcripts. Because in splitHGVSc, it only replaced the ref and alt without considering the strand. There is no need to replace the ref and alt here.

https://github.com/AdamDS/BioMine/blob/d76b619c9b60c80e43bf29354f96547905e64cee/biomine/variant/mafvariant.py#L497-L499

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icebert commented Aug 16, 2019

For insertion and deletion, the start, stop, ref and alt were transformed in the readVCF:

CharGer/charger/charger.py

Lines 257 to 265 in b4a13b1

elif record.is_indel and not record.is_deletion: #insertion
reference = "-"
alt = alt[1:len(alt)]
stop = stop + 1
elif record.is_deletion:
reference = reference[1:len(reference)] #assumes only one base overlap
alt = "-"
start = start + 1
stop = stop

In the getMacClinVarTSV, the variants should be processed in the same way to match.

fernanda-rodrigues added a commit that referenced this pull request Sep 30, 2019
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().
@fernanda-rodrigues fernanda-rodrigues mentioned this pull request Sep 30, 2019
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Issues fixed in release v0.5.3

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4 participants