Article
Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses.
HGG advances - 9 Oct 2025
Williams Cole M, O'Connell Jared, Jewett Ethan, Freyman William A, Gignoux Christopher R, Ramachandran Sohini, Williams Amy L
Abstract excerpt
Haplotype phasing, the process of determining which genetic variants are physically located on the same chromosome, is crucial for genetic analyses. Here, we benchmark SHAPEIT and Beagle, two state-of-the-art phasing methods, on two large datasets: >8 million research-consented 23andMe, Inc. customers and the UK Biobank (UKB). Remarkably, both methods' median switch error rate (SER) (after excluding single SNP...
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