A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

Summary: Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society (HGVS). Despite the widespread use of the standard, no freely available and c...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Bioinformatics
Egile Nagusiak: Hart, Reece K., Rico, Rudolph, Hare, Emily, Garcia, John, Westbrook, Jody, Fusaro, Vincent A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2015
Gaiak:
Applications Notes
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287946/
https://ncbi.nlm.nih.gov/pubmed/25273102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btu630
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