Egor Dolzhenko

2 weeks ago | biorxiv.org | Wenlong Ren |Zhuoqing Fang |Egor Dolzhenko |Chris Saunders

AbstractA more complete map of the pattern of genetic variation among inbred mouse strains is essential for characterizing the genetic architecture of the many available mouse genetic models of important biomedical traits. Although structural variants (SVs) are a major component of genetic variation, they have not been adequately characterized among inbred strains due to methodological limitations.

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.