Article

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

2021-06-02

Abstract excerpt

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 dictio...

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Literature Corpus work: f886224b-ee3f-5a53-9590-2503fb34c17f
DOI: 10.22541/au.162261754.44560305/v1

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