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Article

Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.

American journal of human genetics - 4 Nov 2021

Belbin Gillian M, Rutledge Stephanie, Dodatko Tetyana, Cullina Sinead, Turchin Michael C, Kohli Sumita, Torre Denis, Yee Muh-Ching, Gignoux Christopher R, Abul-Husn Noura S, Houten Sander M, Kenny Eimear E

Abstract excerpt

The integration of genomic data into health systems offers opportunities to identify genomic factors underlying the continuum of rare and common disease. We applied a population-scale haplotype association approach based on identity-by-descent (IBD) in a large multi-ethnic biobank to a spectrum of disease outcomes derived from electronic health records (EHRs) and uncovered a risk locus for liver disease. We used...

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Share to ATP Binding Cassette Transporter, Subfamily B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34678161
DOI: 10.1016/j.ajhg.2021.09.016
PMCID: PMC8595966

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