From f2ee3d4ea0f19fa6715df6e7f4bc2d1a031447bb Mon Sep 17 00:00:00 2001 From: Toshiki Takeuchi Date: Mon, 22 Jan 2024 19:37:08 +0900 Subject: [PATCH 1/2] Prepare for next development iteration (0.11.1-SNAPSHOT) --- CHANGELOG.md | 2 +- project.clj | 2 +- 2 files changed, 2 insertions(+), 2 deletions(-) diff --git a/CHANGELOG.md b/CHANGELOG.md index cbd2bbb..7b9067a 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -1,6 +1,6 @@ # Changelog -## [0.11.0] - date TBD +## [0.11.0] - 2024-01-22 ### Fixed diff --git a/project.clj b/project.clj index c7d2330..535a2bd 100644 --- a/project.clj +++ b/project.clj @@ -1,4 +1,4 @@ -(defproject varity "0.11.0" +(defproject varity "0.11.1-SNAPSHOT" :description "Variant translation library for Clojure" :url "https://github.com/chrovis/varity" :license {:name "Apache License, Version 2.0" From b74961faaf65d6cb35d95b9df2d6131d55cfa81a Mon Sep 17 00:00:00 2001 From: Toshiki Takeuchi Date: Mon, 22 Jan 2024 19:44:30 +0900 Subject: [PATCH 2/2] Tidy up descriptions of breaking change --- CHANGELOG.md | 28 +++++++++++++++++++++++++++- README.md | 36 ------------------------------------ 2 files changed, 27 insertions(+), 37 deletions(-) diff --git a/CHANGELOG.md b/CHANGELOG.md index 7b9067a..94e3b19 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -2,6 +2,13 @@ ## [0.11.0] - 2024-01-22 +### BREAKING + +We fixed the `varity.vcf-to-hgvs` implementation. It is confusing to throw the +exception in `vcf-variant->protein-hgvs` when a variant overlaps the exon-intron +boundaries, even if coding DNA HGVS is available. So we changed the behavior to +return protein HGVS as `nil`. + ### Fixed - Return protein HGVS as `nil` if a variant overlaps exon-intron boundaries. [#89](https://github.com/chrovis/varity/pull/89) @@ -15,7 +22,26 @@ ## [0.10.0] - 2023-12-27 - ### Fixed +### BREAKING + +We introduced enhancements to the description of protein changes by +`varity.vcf-to-hgvs`, specifically making deletions more clinically meaningful: + +1. exon-intron boundary deletions: + +The deletion that overlaps the exon-intron boundary will trigger an Exception +because alterations affecting the splice sites are predicted to be splicing +abnormalities. + +2. stop codon deletions: + +In cases where deletions contain a stop codon, `varity.vcf-to-hgvs` generates +the following outputs based on the alteration sequence: + +- If the alteration sequence contains a stop codon, varity outputs as deletion-insertion. +- Otherwise, this outputs `p.?`. + +### Fixed - Fix upstream and downstream sequence of sequence-info and delins process. [#81](https://github.com/chrovis/varity/pull/81) - Fix boundary of exon/intron determining process. [#82](https://github.com/chrovis/varity/pull/82) diff --git a/README.md b/README.md index 14be85d..7f6d375 100644 --- a/README.md +++ b/README.md @@ -34,42 +34,6 @@ To use varity with Clojure 1.8, you must include a dependency on We fixed the `varity.vcf-to-hgvs` implementation. It is confusing to throw the exception in `vcf-variant->protein-hgvs` when a variant overlaps the exon-intron boundaries, even if coding DNA HGVS is available. So we changed the behavior to return protein HGVS as `nil`. -## Breaking changes in 0.10.0 - -We introduced enhancements to the description of protein changes by `varity.vcf-to-hgvs`, specifically making deletions more clinically meaningful: - -1. exon-intron boundary deletions: - -The deletion that overlaps the exon-intron boundary will trigger an Exception because alterations affecting the splice sites are predicted to be splicing abnormalities. - -2. stop codon deletions: - -In cases where deletions contain a stop codon, `varity.vcf-to-hgvs` generates the following outputs based on the alteration sequence: - -- If the alteration sequence contains a stop codon, varity outputs as deletion-insertion. -- Otherwise, this outputs `p.?`. - -## Breaking changes in 0.9.0 - -The default value of `:prefer-deletion?` option is changed to `false`. - -```clojure -(require '[varity.vcf-to-hgvs :as v2h]) - -(v2h/vcf-variant->coding-dna-hgvs {:chr "chr7", :pos 140924774, :ref "GGGAGGC", :alt "G"} - "path/to/hg38.fa" "path/to/refGene.txt.gz") -;;=> (#clj-hgvs/hgvs "NM_004333:c.-95GCCTCC[3]") -``` - -If you hope the previous behavior, specify `:prefer-deletion? true`. - -```clojure -(v2h/vcf-variant->coding-dna-hgvs {:chr "chr7", :pos 140924774, :ref "GGGAGGC", :alt "G"} - "path/to/hg38.fa" "path/to/refGene.txt.gz" - {:prefer-deletion? true}) -;;=> (#clj-hgvs/hgvs "NM_004333:c.-77_-72delGCCTCC") -``` - ## Usage ### Documentation