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Merge pull request #91 from chrovis/chore/prepare-0.11.1-snapshot
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Prepare for next development iteration (0.11.1-SNAPSHOT)
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nokara26 authored Jan 22, 2024
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30 changes: 28 additions & 2 deletions CHANGELOG.md
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# Changelog

## [0.11.0] - date TBD
## [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

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## [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)
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36 changes: 0 additions & 36 deletions README.md
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Expand Up @@ -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
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2 changes: 1 addition & 1 deletion project.clj
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(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"
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