Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/44811
Title: hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.
Authors: Wang, M
Callenberg, KM
Dalgleish, R
Fedtsov, A
Fox, NK
Freeman, PJ
Jacobs, KB
Kaleta, P
McMurry, AJ
Prlić, A
Rajaraman, V
Hart, RK
First Published: 20-Aug-2018
Publisher: Wiley for Human Genome Variation Society
Citation: Human Mutation, 2018, 39(12), pp. 1803-1813
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 aligned sequences, including those with gapped alignments; (3) flexible installation using remote or local data (fully local installations eliminate network dependencies); (4) extensive automated tests; and (5) open source development by a community from eight organizations worldwide. This report summarizes recent and significant updates to the hgvs package since its original release in 2014, and presents results of extensive validation using clinical relevant variants from ClinVar and HGMD.
DOI Link: 10.1002/humu.23615
eISSN: 1098-1004
Links: https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23615
http://hdl.handle.net/2381/44811
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2018. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Description: The hgvs package is available at github (https://github.com/biocommons/hgvs) under the Apache 2.0 open‐source license. Python packages are available at PyPI (https://pypi.python.org/pypi/hgvs) and easily installed ‘pip install hgvs’. Docker images are available at docker hub (https://hub.docker.com/r/biocommons/hgvs/). Extensive documentation is available (https://hgvs.readthedocs.io/en/master/index.html).
Appears in Collections:Published Articles, Dept. of Genetics

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