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Add function for finding alternative HGVS expressions #33

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merged 1 commit into from Feb 16, 2020

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totakke
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@totakke totakke commented Feb 6, 2020

I added varity.hgvs/find-aliases for finding HGVS aliases.

(require '[varity.hgvs :as vhgvs])

(vhgvs/find-aliases #clj-hgvs/hgvs "NM_000059:c.162CAA[1]"
                    "path/to/hg38.fa" "path/to/refGene.txt.gz")
;;=> (#clj-hgvs/hgvs "NM_000059:c.162CAA[1]"
;;    #clj-hgvs/hgvs "NM_000059:c.165_167delCAA")

(vhgvs/find-aliases #clj-hgvs/hgvs "NM_144639:c.1510-121_1510-120insAGAG"
                    "path/to/hg38.fa" "path/to/refGene.txt.gz")
;;=> (#clj-hgvs/hgvs "NM_144639:c.1510-122AG[3]"
;;    #clj-hgvs/hgvs "NM_144639:c.1510-121_1510-120insAGAG")

This function internally converts the given HGVS to a VCF variant and re-convert the VCF variant to HGVS with possible options, so it supports only a coding DNA HGVS because a protein HGVS cannot be converted to a unique VCF variant.

I confirmed lein test :all passed.

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codecov bot commented Feb 6, 2020

Codecov Report

Merging #33 into master will decrease coverage by 0.08%.
The diff coverage is n/a.

Impacted file tree graph

@@            Coverage Diff             @@
##           master      #33      +/-   ##
==========================================
- Coverage   37.24%   37.16%   -0.09%     
==========================================
  Files          13       14       +1     
  Lines        1549     1590      +41     
  Branches       32       32              
==========================================
+ Hits          577      591      +14     
- Misses        940      967      +27     
  Partials       32       32              
Impacted Files Coverage Δ
src/varity/hgvs.clj 34.14% <0.00%> (ø)

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@federkasten federkasten left a comment

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LGTM 👍 Thank you for the great work.

@federkasten federkasten merged commit 8f35b27 into master Feb 16, 2020
@federkasten federkasten deleted the feature/find-aliases branch February 16, 2020 02:09
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2 participants