Nature Communications (Mar 2019)
Genome maps across 26 human populations reveal population-specific patterns of structural variation
- Michal Levy-Sakin,
- Steven Pastor,
- Yulia Mostovoy,
- Le Li,
- Alden K. Y. Leung,
- Jennifer McCaffrey,
- Eleanor Young,
- Ernest T. Lam,
- Alex R. Hastie,
- Karen H. Y. Wong,
- Claire Y. L. Chung,
- Walfred Ma,
- Justin Sibert,
- Ramakrishnan Rajagopalan,
- Nana Jin,
- Eugene Y. C. Chow,
- Catherine Chu,
- Annie Poon,
- Chin Lin,
- Ahmed Naguib,
- Wei-Ping Wang,
- Han Cao,
- Ting-Fung Chan,
- Kevin Y. Yip,
- Ming Xiao,
- Pui-Yan Kwok
Affiliations
- Michal Levy-Sakin
- Cardiovascular Research Institute, University of California–San Francisco
- Steven Pastor
- School of Biomedical Engineering, Drexel University
- Yulia Mostovoy
- Cardiovascular Research Institute, University of California–San Francisco
- Le Li
- Department of Computer Science and Engineering, The Chinese University of Hong Kong
- Alden K. Y. Leung
- School of Life Sciences and State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong
- Jennifer McCaffrey
- School of Biomedical Engineering, Drexel University
- Eleanor Young
- School of Biomedical Engineering, Drexel University
- Ernest T. Lam
- Bionano Genomics
- Alex R. Hastie
- Bionano Genomics
- Karen H. Y. Wong
- Cardiovascular Research Institute, University of California–San Francisco
- Claire Y. L. Chung
- School of Life Sciences and State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong
- Walfred Ma
- Cardiovascular Research Institute, University of California–San Francisco
- Justin Sibert
- School of Biomedical Engineering, Drexel University
- Ramakrishnan Rajagopalan
- School of Biomedical Engineering, Drexel University
- Nana Jin
- School of Life Sciences and State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong
- Eugene Y. C. Chow
- School of Life Sciences and State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong
- Catherine Chu
- Cardiovascular Research Institute, University of California–San Francisco
- Annie Poon
- Cardiovascular Research Institute, University of California–San Francisco
- Chin Lin
- Cardiovascular Research Institute, University of California–San Francisco
- Ahmed Naguib
- Bionano Genomics
- Wei-Ping Wang
- Bionano Genomics
- Han Cao
- Bionano Genomics
- Ting-Fung Chan
- School of Life Sciences and State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong
- Kevin Y. Yip
- Department of Computer Science and Engineering, The Chinese University of Hong Kong
- 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/s41467-019-08992-7
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 14
Abstract
Large structural variants (SV) are understudied in human genetics research because of the difficulty to detect them in the routinely generated short-read sequencing data. Here, the authors generate optical genome maps of 154 individuals from 26 populations that allow comprehensive examination of large SVs.
