Nature Communications (Oct 2020)
Towards a reference genome that captures global genetic diversity
- 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
Affiliations
- Karen H. Y. Wong
- Cardiovascular Research Institute, University of California, San Francisco
- Walfred Ma
- Cardiovascular Research Institute, University of California, San Francisco
- Chun-Yu Wei
- Institute of Biomedical Sciences, Academia Sinica
- Erh-Chan Yeh
- Institute of Biomedical Sciences, Academia Sinica
- Wan-Jia Lin
- Institute of Biomedical Sciences, Academia Sinica
- Elin H. F. Wang
- Institute of Biomedical Sciences, Academia Sinica
- Jen-Ping Su
- Institute of Biomedical Sciences, Academia Sinica
- Feng-Jen Hsieh
- Institute of Biomedical Sciences, Academia Sinica
- Hsiao-Jung Kao
- Institute of Biomedical Sciences, Academia Sinica
- Hsiao-Huei Chen
- Institute of Biomedical Sciences, Academia Sinica
- Stephen K. Chow
- Cardiovascular Research Institute, University of California, San Francisco
- Eleanor Young
- School of Biomedical Engineering, Drexel University
- Catherine Chu
- Institute for Human Genetics, University of California, San Francisco
- Annie Poon
- Institute for Human Genetics, University of California, San Francisco
- Chi-Fan Yang
- Institute of Biomedical Sciences, Academia Sinica
- Dar-Shong Lin
- Department of Pediatrics, Mackay Memorial Hospital
- Yu-Feng Hu
- Institute of Biomedical Sciences, Academia Sinica
- Jer-Yuarn Wu
- Institute of Biomedical Sciences, Academia Sinica
- Ni-Chung Lee
- Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital
- Wuh-Liang Hwu
- Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital
- Dario Boffelli
- Children’s Hospital Oakland Research Institute
- David Martin
- Children’s Hospital Oakland Research Institute
- Ming Xiao
- School of Biomedical Engineering, Drexel University
- Pui-Yan Kwok
- Cardiovascular Research Institute, University of California, San Francisco
- DOI
- https://doi.org/10.1038/s41467-020-19311-w
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 11
Abstract
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.
