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Optimizing UK Biobank Cloud Based Research Analysis Platform to Fine Map Coronary Artery Disease Loci in Whole Genome Sequencing Data

2024-09-25

Abstract excerpt

We conducted the first comprehensive association analysis of a coronary artery disease (CAD) cohort within the recently released UK Biobank (UKB) whole genome sequencing dataset. We employed fine mapping tool PolyFun and pinpoint rs 10757274 as the most likely causal SNV within the 9p21.3 CAD risk locus. Notably, we show that machine-learning (ML) approaches, REGENIE and VariantSpark, exhibited greater sensitivity...

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Literature Corpus work: f76be329-e9dc-52ac-812e-03267e04b589
DOI: 10.1101/2024.09.23.24313932

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