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Article

A new expectation-maximization statistical test for case-control association studies considering rare variants obtained by high-throughput sequencing.

Human heredity - 1 Jan 2011

Gordon Derek, Finch Stephen J, De La Vega Francisco M, De La Vega Francisco

Abstract excerpt

Genome-wide association studies (GWAS) have been successful in identifying common genetic variation reproducibly associated with disease. However, most associated variants confer very small risk and after meta-analysis of large cohorts a large fraction of expected heritability still remains unexplained. A possible explanation is that rare variants currently undetected by GWAS with SNP arrays could contribute a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 21734402
DOI: 10.1159/000325590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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