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Article

Variations in Nomenclature of Clinical Variants between Annotation Tools.

Laboratory medicine - 5 May 2022

Park Kyoung-Jin, Park Jong-Ho

Abstract excerpt

BACKGROUND: Accurate nomenclature of variants is an essential element for genetic diagnosis and patient care. OBJECTIVE: To investigate annotation differences of clinical variants between annotation tools. METHODS: We analyzed 218,156 clinical variants from the Human Gene Mutation Database. Multiple nomenclatures based on RefSeq transcripts were provided using ANNOVAR and snpEff. RESULTS: The concordance rate...

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PMID: 34612497
DOI: 10.1093/labmed/lmab074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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