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hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.

Human mutation - 1 Dec 2018

Wang Meng, Callenberg Keith M, Dalgleish Raymond, Fedtsov Alexandre, Fox Naomi K, Freeman Peter J, Jacobs Kevin B, Kaleta Piotr, McMurry Andrew J, Prlić Andreas, Rajaraman Veena, Hart Reece K

Abstract excerpt

The Human Genome Variation Society (HGVS) nomenclature guidelines encourage the accurate and standard description of DNA, RNA, and protein sequence variants in public variant databases and the scientific literature. Inconsistent application of the HGVS guidelines can lead to misinterpretation of variants in clinical settings. Reliable software tools are essential to ensure consistent application of the HGVS...

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PMID: 30129167
DOI: 10.1002/humu.23615
PMCID: PMC6282708

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