De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
Peter Ebert, Peter A. Audano, Qihui Zhu, Bernardo Rodríguez–Martín, David Porubskỳ, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, , Evan E. Eichler
The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.
Science · Feb 25, 2021Peer-reviewedGenetics