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Fix mistranslation from HGVS to vcf variant #5

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merged 3 commits into from
Jan 30, 2018

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federkasten
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This patch fixes the hgvs-to-vcf translation of protein HGVS input and adds refseq ID into the results.

There are cases where it mistranslates HGVS for minus strand gene's mutations (e.g. ALK L1196M). I fixed the minor bug and add tests.

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codecov bot commented Jan 28, 2018

Codecov Report

Merging #5 into master will decrease coverage by 0.02%.
The diff coverage is 0%.

Impacted file tree graph

@@            Coverage Diff             @@
##           master       #5      +/-   ##
==========================================
- Coverage   33.48%   33.45%   -0.03%     
==========================================
  Files          12       12              
  Lines        1126     1127       +1     
  Branches       32       32              
==========================================
  Hits          377      377              
- Misses        717      718       +1     
  Partials       32       32
Impacted Files Coverage Δ
src/varity/hgvs_to_vcf/protein.clj 10.14% <0%> (-0.15%) ⬇️

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@totakke totakke merged commit 5afe217 into master Jan 30, 2018
@totakke totakke deleted the fix/refseq-in-hgvs-to-vcf branch January 30, 2018 05:36
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totakke commented Jan 30, 2018

Thank you!

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2 participants