作者
Ting Wang, Lucinda Antonacci-Fulton, Kerstin Howe, Heather A Lawson, Julian K Lucas, Adam M Phillippy, Alice B Popejoy, Mobin Asri, Caryn Carson, Mark JP Chaisson, Xian Chang, Robert Cook-Deegan, Adam L Felsenfeld, Robert S Fulton, Erik P Garrison, Nanibaa’A Garrison, Tina A Graves-Lindsay, Hanlee Ji, Eimear E Kenny, Barbara A Koenig, Daofeng Li, Tobias Marschall, Joshua F McMichael, Adam M Novak, Deepak Purushotham, Valerie A Schneider, Baergen I Schultz, Michael W Smith, Heidi J Sofia, Tsachy Weissman, Paul Flicek, Heng Li, Karen H Miga, Benedict Paten, Erich D Jarvis, Ira M Hall, Evan E Eichler, David Haussler, Human Pangenome Reference Consortium
发表日期
2022/4/21
来源
Nature
卷号
604
期号
7906
页码范围
437-446
出版商
Nature Publishing Group UK
简介
The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnerships with the goal of constructing the highest-possible quality human pangenome reference. Our goal …
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