William A. Freyman

May 10, 2024 | biorxiv.org | Cole Williams |Jared O’Connell |William A. Freyman |Christopher R. Gignoux

ABSTRACTHaplotype phasing, the process of determining which genetic variants are physically located on the same chromosome, is crucial for various genetic analyses. In this study, we first benchmark SHAPEIT and Beagle, two state-of-the-art phasing methods, on two large datasets: > 8 million diverse, research-consented 23andMe, Inc. customers and the UK Biobank (UKB). We find that both perform exceptionally well.