Article
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Science (New York, N.Y.) - 2 Apr 2021
Ebert Peter, Audano Peter A, Zhu Qihui, Rodriguez-Martin Bernardo, Porubsky David, Bonder Marc Jan, 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 Martin, Höps Wolfram, Ashraf Hufsah, Chuang Nelson T, Yang Xiaofei, Munson Katherine M, Lewis Alexandra P, Fairley Susan, Tallon Luke J, Clarke Wayne E, Basile Anna O, Byrska-Bishop Marta, Corvelo André, Evani Uday S, Lu Tsung-Yu, Chaisson Mark J P, Chen Junjie, Li Chong, Brand Harrison, Wenger Aaron M, Ghareghani Maryam, Harvey William T, Raeder Benjamin, Hasenfeld Patrick, Regier Allison A, Abel Haley J, Hall Ira M, Flicek Paul, Stegle Oliver, Gerstein Mark B, Tubio Jose M C, Mu Zepeng, Li Yang I, Shi Xinghua, Hastie Alex R, Ye Kai, Chong Zechen, Sanders Ashley D, Zody Michael C, Talkowski Michael E, Mills Ryan E, Devine Scott E, Lee Charles, Korbel Jan O, Marschall Tobias, Eichler Evan E
Abstract excerpt
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 minimum contig length needed to cover 50% of the genome: 26 million base pairs) integrate all forms of genetic...
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