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

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 var...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Informatics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6282708/
https://ncbi.nlm.nih.gov/pubmed/30129167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23615
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