LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.

Autor:	Watkins MT; University of Utah, Salt Lake City, UT., Kohlmann WK; Huntsman Cancer Institute, Salt Lake City, UT., Berry TS; Huntsman Cancer Institute, Salt Lake City, UT., Sama NR; Huntsman Cancer Institute, Salt Lake City, UT., Koptiuch C; Huntsman Cancer Institute, Salt Lake City, UT., Rynearson SG; University of Utah, Salt Lake City, UT., Eilbeck KL; University of Utah, Salt Lake City, UT.
Jazyk:	angličtina
Zdroj:	AMIA ... Annual Symposium proceedings. AMIA Symposium [AMIA Annu Symp Proc] 2023 Apr 29; Vol. 2022, pp. 1145-1152. Date of Electronic Publication: 2023 Apr 29 (Print Publication: 2022).
Abstrakt:	While there are several public repositories of biological sequence variation data and associated annotations, there is little open-source tooling designed specifically for the upkeep of local collections of variant data. Many clinics curate and maintain such local collections and are burdened by frequent changes in the representation of those variants and evolving interpretations of clinical significance. A dictionary of genetic variants from the Huntsman Cancer Institute was analyzed over a period of two years and used to inform the development of LocalVar. This tool uses publicly available ClinVar files to provide the following functionality: auto-complete search bar to pre-empt duplicate entries; single or bulk new variant record entry; auto-detection of duplicate and synonymous variant records; asynchronous suggestion of HGVS expression or variant interpretation updates; extensive edit history tracking; and the easy export of the collection (.csv), edit history (.json), or HGVS synonym bins (.json). (©2022 AMIA - All rights reserved.)
Databáze:	MEDLINE
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