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

Autor: 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.

Publikováno v: Human Mutation
Wang, M, Callenberg, K M, Dalgleish, R, Fedtsov, A, Fox, N K, Freeman, P J, Jacobs, K B, Kaleta, P, McMurry, A J, Prlić, A, Rajaraman, V & Hart, R K 2018, ' hgvs : A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update ', Human Mutation, vol. 39, no. 12, pp. 1803-1813 . https://doi.org/10.1002/humu.23615

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 HG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::06101c040748f8b95b57cfe2eb149ec4
http://europepmc.org/articles/PMC6282708

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