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Article

Annotating the biomedical literature for the human variome.

Database : the journal of biological databases and curation - 1 Jan 2013

Verspoor Karin, Jimeno Yepes Antonio, Cavedon Lawrence, McIntosh Tara, Herten-Crabb Asha, Thomas Zoë, Plazzer John-Paul

Abstract excerpt

This article introduces the Variome Annotation Schema, a schema that aims to capture the core concepts and relations relevant to cataloguing and interpreting human genetic variation and its relationship to disease, as described in the published literature. The schema was inspired by the needs of the database curators of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) database, but is...

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Identifiers

PMID: 23584833
DOI: 10.1093/database/bat019
PMCID: PMC3676157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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