Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort.

doi:10.1053/j.gastro.2020.12.034

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Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort.

Gastroenterology - 1 Apr 2021

Gettler Kyle, Levantovsky Rachel, Moscati Arden, Giri Mamta, Wu Yiming, Hsu Nai-Yun, Chuang Ling-Shiang, Sazonovs Aleksejs, Venkateswaran Suresh, Korie Ujunwa, Chasteau Colleen, Duerr Richard H, Silverberg Mark S, Snapper Scott B, Daly Mark J, McGovern Dermot P, Brant Steven R, Rioux John D, Kugathasan Subra, Anderson Carl A, Itan Yuval, Cho Judy H

Abstract excerpt

BACKGROUND AND AIMS: Polygenic risk scores (PRS) may soon be used to predict inflammatory bowel disease (IBD) risk in prevention efforts. We leveraged exome-sequence and single nucleotide polymorphism (SNP) array data from 29,358 individuals in the multiethnic, randomly ascertained health system-based BioMe biobank to define effects of common and rare IBD variants on disease prediction and pathophysiology....

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PMID: 33359885
DOI: 10.1053/j.gastro.2020.12.034
PMCID: PMC8237248

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