Philip C. Dishuck

Jun 6, 2024 | biorxiv.org | Hyeonsoo Jeong |Philip C. Dishuck |DongAhn Yoo |William Harvey

AbstractSegmental duplications (SDs) contribute significantly to human disease, evolution, and diversity yet have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies where the majority of SDs are fully resolved using long-read sequence assembly.

May 10, 2023 | nature.com | Mitchell R. Vollger |Philip C. Dishuck |Katherine Munson |Glennis A. Logsdon |David Porubsky |Benedict Paten | +1 more

AbstractSingle-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data1,2. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the pattern of SNVs between unique and duplicated regions3,4.