Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

Abstract Variant 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 paralogous genes together. We applied Paraphase to 160 long (>10 kb) segmental duplication regi...

Descrizione completa

Dettagli Bibliografici

Autori principali:	Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Rhonda Brandon, Kathleen S. Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman, Emily Farrow, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperaviciute, Christian Gilissen, Lisenka Vissers, Alexander Hoischen, Seth Berger, Eric Vilain, Emmanuèle Délot, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Michael A. Eberle
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Nature Portfolio 2025-03-01
Serie:	Nature Communications
Accesso online:	https://doi.org/10.1038/s41467-025-57505-2
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!