NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

Summary: The lack of haplotype reference panels and whole-genome sequencing resources specific to the Chinese population has greatly hindered genetic studies in the world’s largest population. Here, we present the NyuWa genome resource, based on deep (26.2×) sequencing of 2,999 Chinese individuals,...

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Autores principales:	Peng Zhang, Huaxia Luo, Yanyan Li, You Wang, Jiajia Wang, Yu Zheng, Yiwei Niu, Yirong Shi, Honghong Zhou, Tingrui Song, Quan Kang, Tao Xu, Shunmin He
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	whole genome sequencing Chinese population haplotype reference panel genome resource variants Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/f29a1a206394498f8c982424d66c0e83
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spelling	oai:doaj.org-article:f29a1a206394498f8c982424d66c0e832021-11-18T04:47:57ZNyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population2211-124710.1016/j.celrep.2021.110017https://doaj.org/article/f29a1a206394498f8c982424d66c0e832021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2211124721014996https://doaj.org/toc/2211-1247Summary: The lack of haplotype reference panels and whole-genome sequencing resources specific to the Chinese population has greatly hindered genetic studies in the world’s largest population. Here, we present the NyuWa genome resource, based on deep (26.2×) sequencing of 2,999 Chinese individuals, and construct a NyuWa reference panel of 5,804 haplotypes and 19.3 million variants, which is a high-quality publicly available Chinese population-specific reference panel with thousands of samples. Compared with other panels, the NyuWa reference panel reduces the Han Chinese imputation error rate by a margin ranging from 30% to 51%. Population structure and imputation simulation tests support the applicability of one integrated reference panel for northern and southern Chinese. In addition, a total of 22,504 loss-of-function variants in coding and noncoding genes are identified, including 11,493 novel variants. These results highlight the value of the NyuWa genome resource in facilitating genetic research in Chinese and Asian populations.Peng ZhangHuaxia LuoYanyan LiYou WangJiajia WangYu ZhengYiwei NiuYirong ShiHonghong ZhouTingrui SongQuan KangTao XuShunmin HeElsevierarticlewhole genome sequencingChinese populationhaplotype reference panelgenome resourcevariantsBiology (General)QH301-705.5ENCell Reports, Vol 37, Iss 7, Pp 110017- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	whole genome sequencing Chinese population haplotype reference panel genome resource variants Biology (General) QH301-705.5
spellingShingle	whole genome sequencing Chinese population haplotype reference panel genome resource variants Biology (General) QH301-705.5 Peng Zhang Huaxia Luo Yanyan Li You Wang Jiajia Wang Yu Zheng Yiwei Niu Yirong Shi Honghong Zhou Tingrui Song Quan Kang Tao Xu Shunmin He NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
description	Summary: The lack of haplotype reference panels and whole-genome sequencing resources specific to the Chinese population has greatly hindered genetic studies in the world’s largest population. Here, we present the NyuWa genome resource, based on deep (26.2×) sequencing of 2,999 Chinese individuals, and construct a NyuWa reference panel of 5,804 haplotypes and 19.3 million variants, which is a high-quality publicly available Chinese population-specific reference panel with thousands of samples. Compared with other panels, the NyuWa reference panel reduces the Han Chinese imputation error rate by a margin ranging from 30% to 51%. Population structure and imputation simulation tests support the applicability of one integrated reference panel for northern and southern Chinese. In addition, a total of 22,504 loss-of-function variants in coding and noncoding genes are identified, including 11,493 novel variants. These results highlight the value of the NyuWa genome resource in facilitating genetic research in Chinese and Asian populations.
format	article
author	Peng Zhang Huaxia Luo Yanyan Li You Wang Jiajia Wang Yu Zheng Yiwei Niu Yirong Shi Honghong Zhou Tingrui Song Quan Kang Tao Xu Shunmin He
author_facet	Peng Zhang Huaxia Luo Yanyan Li You Wang Jiajia Wang Yu Zheng Yiwei Niu Yirong Shi Honghong Zhou Tingrui Song Quan Kang Tao Xu Shunmin He
author_sort	Peng Zhang
title	NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
title_short	NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
title_full	NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
title_fullStr	NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
title_full_unstemmed	NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
title_sort	nyuwa genome resource: a deep whole-genome sequencing-based variation profile and reference panel for the chinese population
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/f29a1a206394498f8c982424d66c0e83
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NyuWa Genome resource: A deep whole-genome sequencing-based variation profile and reference panel for the Chinese population

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