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Article

The role of admixture in the rare variant contribution to inflammatory bowel disease.

Genome medicine - 15 Nov 2023

Astore Courtney, Sharma Shivam, Nagpal Sini, Cutler David J, Rioux John D, Cho Judy H, McGovern Dermot P B, Brant Steven R, Kugathasan Subra, Jordan I King, Gibson Greg

Abstract excerpt

BACKGROUND: Identification of rare variants involved in complex, polygenic diseases like Crohn's disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can be used in both diagnostic and therapeutic assessments; however, since they are likely to be restricted to specific ancestry groups, their contributions to risk assessment need to be evaluated...

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PMID: 37968638
DOI: 10.1186/s13073-023-01244-w
PMCID: PMC10647102

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NOD2

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