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Moving from GWAS signals to rare functional variation in inflammatory bowel disease through application of GenePy2 as a potential DNA biomarker

2024-04-20

Abstract excerpt

<h4>Objectives</h4> We adopt a weighted variant burden score GenePy2.0 for the UK Biobank phase 2 cohort of inflammatory bowel disease (IBD), to explore potential genomic biomarkers underpinning IBD’s known associations. <h4>Design</h4> Nucleating from IBD GWAS signals, we identified 794 GWAS loci, including target genes/LD-blocks (LDBs) based on linkage-disequilibrium (LD) and functional mapping. We calculated Ge...

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Literature Corpus work: c83fab73-f669-53e8-a929-f9df440f552b
DOI: 10.1101/2024.04.19.24306093

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