Article
Towards a reference genome that captures global genetic diversity.
Nature communications - 30 Oct 2020
Wong Karen H Y, Ma Walfred, Wei Chun-Yu, Yeh Erh-Chan, Lin Wan-Jia, Wang Elin H F, Su Jen-Ping, Hsieh Feng-Jen, Kao Hsiao-Jung, Chen Hsiao-Huei, Chow Stephen K, Young Eleanor, Chu Catherine, Poon Annie, Yang Chi-Fan, Lin Dar-Shong, Hu Yu-Feng, Wu Jer-Yuarn, Lee Ni-Chung, Hwu Wuh-Liang, Boffelli Dario, Martin David, Xiao Ming, Kwok Pui-Yan
Abstract excerpt
The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. Here, we analyze 338 high-quality human assemblies of genetically divergent human populations to identify missing sequences in the human reference genome with breakpoint resolution. We identify 127,727 recurrent non-reference unique insertions spanning 18,048,877 bp,...
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