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Bug in converting from hgvs ins/ dup into VCF #452

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mmcneill123 opened this issue May 16, 2019 · 2 comments
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Bug in converting from hgvs ins/ dup into VCF #452

mmcneill123 opened this issue May 16, 2019 · 2 comments
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@mmcneill123
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mmcneill123 commented May 16, 2019

Good morning,
I've been doing testing using JANNOVAR to convert variants from transcript-oriented HGVS format into genomic oriented VCF files.
My tests with deletions and SNPs have been successful, but I've gotten unexpected results with insertions and duplication. Would you please take a look at the two examples below?
I generated by expected result by manual interrogation of NCBI's genome browser and verifying the variant conversion using https://variantvalidator.org

Conversions are in GRCh38 (human) genome.

Duplication:
NM_001129765.1:c.696dupG
Expected X:152867579 A>AG
Observed: X:152867580 A>AG

Insertion:
NM_001129765.1:c.696_697insT
Expected: X:152867580 G>GT
Observed: X:152867580 A>AT

@holtgrewe
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Using RefSeq, Jannovar currently only consider the mRNA sequence from RefSeq and not the reference genome. This needs to be changed, I guess.

@holtgrewe holtgrewe modified the milestones: 0.30, 0.31 May 21, 2019
@holtgrewe
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Will be fixed in next release.

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