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Fix exon/intron boundary determine process and frameshift that affects initiation site #92

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nokara26
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@nokara26 nokara26 commented Feb 1, 2024

I fixed exon/intron boundary determine process to check position only changed.
And I fixed frameshift that affects initiation site.

@nokara26 nokara26 requested a review from federkasten February 1, 2024 01:21
@nokara26 nokara26 self-assigned this Feb 1, 2024
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codecov bot commented Feb 1, 2024

Codecov Report

Attention: 10 lines in your changes are missing coverage. Please review.

Comparison is base (c9d44d9) 46.45% compared to head (2adaed8) 46.93%.

Files Patch % Lines
src/varity/vcf_to_hgvs/protein.clj 71.42% 8 Missing and 2 partials ⚠️
Additional details and impacted files
@@            Coverage Diff             @@
##           master      #92      +/-   ##
==========================================
+ Coverage   46.45%   46.93%   +0.48%     
==========================================
  Files          16       16              
  Lines        2101     2124      +23     
  Branches       70       71       +1     
==========================================
+ Hits          976      997      +21     
- Misses       1055     1056       +1     
- Partials       70       71       +1     

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(if (= alt \*)
(cond
(or ref-include-utr-ini-site-boundary
(not (string/starts-with? alt-prot-seq "M")))
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To exclude UTR and initiation site is changed but first amino acid of alt-prot-seq is "M".

exon-ranges))))
(let [[pos nref] (if (= (first ref) (first alt))
[(inc pos) (dec nref)]
[pos nref])]
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only check changed position

@nokara26 nokara26 marked this pull request as draft February 1, 2024 02:00
@nokara26 nokara26 force-pushed the fix/fix-exon-intron-overlap-and-ini-site-variant branch from df0b6eb to 0587070 Compare February 1, 2024 02:26
@nokara26 nokara26 marked this pull request as ready for review February 1, 2024 02:30
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@federkasten federkasten left a comment

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Thanks!

I noticed the overlap-exon-intron-boundary? function could use more versatility, so I created #93. I would like to merge this PR after #93.

I checked out the other changes in this PR. They look good to me! 👌

Refactor and generalize overlap-exon-intron-boundary?
@nokara26 nokara26 requested a review from federkasten February 2, 2024 00:22
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Thanks for reviewing #93. Approved.

@federkasten federkasten merged commit d88d5dc into master Feb 2, 2024
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@federkasten federkasten deleted the fix/fix-exon-intron-overlap-and-ini-site-variant branch February 2, 2024 01:41
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2 participants