Towards a reference genome that captures global genetic diversity

Towards a reference genome that captures global genetic diversity

The human reference genome does not fully reflect human genetic diversity. Here, the authors analyse 338 human genome assemblies from diverse populations to identify missing sequences, define non-reference unique insertions and construct a Human Diversity Reference.

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Bibliographic Details
Main Authors: Karen H. Y. Wong, Walfred Ma, Chun-Yu Wei, Erh-Chan Yeh, Wan-Jia Lin, Elin H. F. Wang, Jen-Ping Su, Feng-Jen Hsieh, Hsiao-Jung Kao, Hsiao-Huei Chen, Stephen K. Chow, Eleanor Young, Catherine Chu, Annie Poon, Chi-Fan Yang, Dar-Shong Lin, Yu-Feng Hu, Jer-Yuarn Wu, Ni-Chung Lee, Wuh-Liang Hwu, Dario Boffelli, David Martin, Ming Xiao, Pui-Yan Kwok
Format: article
Language:EN
Published: Nature Portfolio 2020
Subjects:
Science
Q
Online Access:https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb0
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Summary:The human reference genome does not fully reflect human genetic diversity. Here, the authors analyse 338 human genome assemblies from diverse populations to identify missing sequences, define non-reference unique insertions and construct a Human Diversity Reference.

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