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Copy file name to clipboardexpand all lines: README.md
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@@ -34,42 +34,6 @@ To use varity with Clojure 1.8, you must include a dependency on
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We fixed the `varity.vcf-to-hgvs` implementation.
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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`.
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## Breaking changes in 0.10.0
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We introduced enhancements to the description of protein changes by `varity.vcf-to-hgvs`, specifically making deletions more clinically meaningful:
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1. exon-intron boundary deletions:
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The deletion that overlaps the exon-intron boundary will trigger an Exception because alterations affecting the splice sites are predicted to be splicing abnormalities.
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2. stop codon deletions:
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In cases where deletions contain a stop codon, `varity.vcf-to-hgvs` generates the following outputs based on the alteration sequence:
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- If the alteration sequence contains a stop codon, varity outputs as deletion-insertion.
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- Otherwise, this outputs `p.?`.
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## Breaking changes in 0.9.0
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The default value of `:prefer-deletion?` option is changed to `false`.
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