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

ABSTRACT: 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 presence/absence of a complex disease for each subject. We adapt a two-stage inter-rater agreement model to the genetic association setting to identify features predictive of overlap variants, while accounting for their marginal trait associations. The resulting corrected overlap and marginal enrichment test (COMET) also assesses enrichment at the individual trait level. Multiple ca

SUBMITTER: Asimit JL 

PROVIDER: S-EPMC5302181 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature