Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort.
Gettler K, Levantovsky R, Moscati A et al.
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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.
15,507 European ancestry cases, 25,403 European ancestry controls, 2,345 African American cases, 5,002 African American controls
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