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

ABSTRACT: 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 guidelines when reporting and interpreting variants. We present the hgvs Python package, a comprehensive tool for manipulating sequence variants according to the HGVS nomenclature guidelines. Distinguishing features of the hgvs package include: (1) parsing, formatting, validating, and normalizing variants on genome, transcript, and protein sequences; (2) projecting variants between alig

SUBMITTER: Wang M 

PROVIDER: S-EPMC6282708 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature