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...

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Detalles Bibliográficos
Autores principales: Hart, Reece K., Rico, Rudolph, Hare, Emily, Garcia, John, Westbrook, Jody, Fusaro, Vincent A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287946/
https://www.ncbi.nlm.nih.gov/pubmed/25273102
http://dx.doi.org/10.1093/bioinformatics/btu630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287946/
https://www.ncbi.nlm.nih.gov/pubmed/25273102
http://dx.doi.org/10.1093/bioinformatics/btu630

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