Fast two-stage phasing of large-scale sequence data

• Published in: American journal of human genetics Vol. 108; no. 10; pp. 1880 - 1890
• Main Authors: Browning, Brian L., Tian, Xiaowen, Zhou, Ying, Browning, Sharon R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 07.10.2021; Elsevier
• Subjects: Algorithms; Asthma - genetics; Atrial Fibrillation - genetics; Data Interpretation, Statistical; Female; Genome, Human; Genome-Wide Association Study; Genotype; genotype phasing; haplotype phasing; Haplotypes; Humans; Male; phasing; Polymorphism, Single Nucleotide; Software; TOPMed; UK Biobank; TOPMed; genotype phasing; UK Biobank; phasing; haplotype phasing

Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast, accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP array and sequence data. The method uses marker windowing and composite reference haplotypes to reduce memory usage and comp...