Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Ebert, Peter; A. Audano, Peter; Zhu, Qihui; Rodríguez–Martín, Bernardo; Porubskỳ, David; Jan Bonder, Marc; Sulovari, Arvis; Ebler, Jana; Zhou, Weichen; Serra Mari, Rebecca; Yilmaz, Feyza; Zhao, Xuefang; Hsieh, PingHsun; Lee, Joyce; Kumar, Sushant; Lin, Jiadong; Rausch, Tobias; Chen, Yu; Ren, Jingwen; Santamarina, Martín; Höps, Wolfram; Ashraf, Hufsah; T. Chuang, Nelson; Yang, Xiaofei; M. Munson, Katherine; P. Lewis, Alexandra; Fairley, Susan; J. Tallon, Luke; E. Clarke, Wayne; O. Basile, Anna; Byrska-Bishop, Marta; Corvelo, André; S. Evani, Uday; Lu, Tsung-Yu; Chaisson, Mark; Chen, Junjie; Li, Chong; Brand, Harrison; M. Wenger, Aaron; Ghareghani, Maryam; T. Harvey, William; Raeder, Benjamin; Hasenfeld, Patrick; Regier, Allison; Abel, Haley; M. Hall, Ira; Flicek, Paul; Stegle, Oliver; Gerstein, Mark; M. C. Tubío, José; Mu, Zepeng; Li, Yang; Shi, Xinghua; Hastie, Alex; Ye, Kai; Chong, Zechen; D. Sanders, Ashley; C. Zody, Michael; E. Talkowski, Michael; E. Mills, Ryan; E. Devine, Scott; Lee, Charles; O. Korbel, Jan; Marschall, Tobias; E. Eichler, Evan

doi:10.1126/science.abf7117

Public

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Published in Science • Feb 25, 2021

Authors:

Peter Ebert

Peter A. Audano

Qihui Zhu

Abstract

Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent-child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average mini...

Subject

Haplotype

Structural variation

Human genome

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