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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb0
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

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spelling	oai:doaj.org-article:c8c00ea643e14a5fb06226803d1d0cb02021-12-02T17:32:25ZTowards a reference genome that captures global genetic diversity10.1038/s41467-020-19311-w2041-1723https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb02020-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19311-whttps://doaj.org/toc/2041-1723The 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.Karen H. Y. WongWalfred MaChun-Yu WeiErh-Chan YehWan-Jia LinElin H. F. WangJen-Ping SuFeng-Jen HsiehHsiao-Jung KaoHsiao-Huei ChenStephen K. ChowEleanor YoungCatherine ChuAnnie PoonChi-Fan YangDar-Shong LinYu-Feng HuJer-Yuarn WuNi-Chung LeeWuh-Liang HwuDario BoffelliDavid MartinMing XiaoPui-Yan KwokNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
title	Towards a reference genome that captures global genetic diversity
title_short	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_sort	towards a reference genome that captures global genetic diversity
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/c8c00ea643e14a5fb06226803d1d0cb0
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Towards a reference genome that captures global genetic diversity

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