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Article

A two-stage inter-rater approach for enrichment testing of variants associated with multiple traits.

European journal of human genetics : EJHG - 1 Feb 2017

Asimit Jennifer L, Payne Felicity, Morris Andrew P, Cordell Heather J, Barroso Inês

Abstract excerpt

Shared genetic aetiology may explain the co-occurrence of diseases in individuals more often than expected by chance. On identifying associated variants shared between two traits, one objective is to determine whether such overlap may be explained by specific genomic characteristics (eg, functional annotation). In clinical studies, inter-rater agreement approaches assess concordance among expert opinions on the...

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PMID: 28000695
DOI: 10.1038/ejhg.2016.171
PMCID: PMC5302181

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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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