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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2020-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-020-19311-w |
| _version_ | 1819129808302374912 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Karen H. Y. Wong |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T08:49:36Z |
| format | Article |
| id | doaj.art-c8c00ea643e14a5fb06226803d1d0cb0 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-22T08:49:36Z |
| publishDate | 2020-10-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-c8c00ea643e14a5fb06226803d1d0cb02022-12-21T18:32:01ZengNature PortfolioNature Communications2041-17232020-10-0111111110.1038/s41467-020-19311-wTowards a reference genome that captures global genetic diversityKaren H. Y. Wong0Walfred Ma1Chun-Yu Wei2Erh-Chan Yeh3Wan-Jia Lin4Elin H. F. Wang5Jen-Ping Su6Feng-Jen Hsieh7Hsiao-Jung Kao8Hsiao-Huei Chen9Stephen K. Chow10Eleanor Young11Catherine Chu12Annie Poon13Chi-Fan Yang14Dar-Shong Lin15Yu-Feng Hu16Jer-Yuarn Wu17Ni-Chung Lee18Wuh-Liang Hwu19Dario Boffelli20David Martin21Ming Xiao22Pui-Yan Kwok23Cardiovascular Research Institute, University of California, San FranciscoCardiovascular Research Institute, University of California, San FranciscoInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaCardiovascular Research Institute, University of California, San FranciscoSchool of Biomedical Engineering, Drexel UniversityInstitute for Human Genetics, University of California, San FranciscoInstitute for Human Genetics, University of California, San FranciscoInstitute of Biomedical Sciences, Academia SinicaDepartment of Pediatrics, Mackay Memorial HospitalInstitute of Biomedical Sciences, Academia SinicaInstitute of Biomedical Sciences, Academia SinicaDepartments of Pediatrics and Medical Genetics, National Taiwan University HospitalDepartments of Pediatrics and Medical Genetics, National Taiwan University HospitalChildren’s Hospital Oakland Research InstituteChildren’s Hospital Oakland Research InstituteSchool of Biomedical Engineering, Drexel UniversityCardiovascular Research Institute, University of California, San FranciscoThe 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.https://doi.org/10.1038/s41467-020-19311-w |
| spellingShingle | 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 Towards a reference genome that captures global genetic diversity Nature Communications |
| title | Towards a reference genome that captures global genetic diversity |
| title_full | Towards a reference genome that captures global genetic diversity |
| title_fullStr | Towards a reference genome that captures global genetic diversity |
| title_full_unstemmed | Towards a reference genome that captures global genetic diversity |
| title_short | Towards a reference genome that captures global genetic diversity |
| title_sort | towards a reference genome that captures global genetic diversity |
| url | https://doi.org/10.1038/s41467-020-19311-w |
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