Egor Dolzhenko

Apr 24, 2024 | biorxiv.org | Xiao Chen |Daniel Baker |Egor Dolzhenko |Joseph Devaney

AbstractVariant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of a gene family. We applied Paraphase to 160 long (>10 kb) segmental duplication regions across the human genome with high (>99%) sequence similarity, encoding 316 genes. Analysis across five ancestral populations revealed highly variable copy numbers of these regions.