Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

Abstract Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from...

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Autores principales:	Chun-Yu Wei, Jenn-Hwai Yang, Erh-Chan Yeh, Ming-Fang Tsai, Hsiao-Jung Kao, Chen-Zen Lo, Lung-Pao Chang, Wan-Jia Lin, Feng-Jen Hsieh, Saurabh Belsare, Anand Bhaskar, Ming-Wei Su, Te-Chang Lee, Yi-Ling Lin, Fu-Tong Liu, Chen-Yang Shen, Ling-Hui Li, Chien-Hsiun Chen, Jeffrey D. Wall, Jer-Yuarn Wu, Pui-Yan Kwok
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/3593b2764afa4ac58f96065a27161ace
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spelling	oai:doaj.org-article:3593b2764afa4ac58f96065a27161ace2021-12-02T13:30:11ZGenetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese10.1038/s41525-021-00178-92056-7944https://doaj.org/article/3593b2764afa4ac58f96065a27161ace2021-02-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00178-9https://doaj.org/toc/2056-7944Abstract Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from 1492 individuals and genome-wide SNP data from 103,106 individuals of Han Chinese ancestry using custom SNP arrays. Principal components analysis of the genotyping data showed that the full range of Han Chinese genetic variation was found in the cohort. The arrays also include thousands of known functional variants, allowing for simultaneous ascertainment of Mendelian disease-causing mutations and variants that affect drug metabolism. We found that 21.2% of the population are mutation carriers of autosomal recessive diseases, 3.1% have mutations in cancer-predisposing genes, and 87.3% carry variants that affect drug response. We highlight how TWB data provide insight into both population history and disease burden, while showing how widespread genetic testing can be used to improve clinical care.Chun-Yu WeiJenn-Hwai YangErh-Chan YehMing-Fang TsaiHsiao-Jung KaoChen-Zen LoLung-Pao ChangWan-Jia LinFeng-Jen HsiehSaurabh BelsareAnand BhaskarMing-Wei SuTe-Chang LeeYi-Ling LinFu-Tong LiuChen-Yang ShenLing-Hui LiChien-Hsiun ChenJeffrey D. WallJer-Yuarn WuPui-Yan KwokNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Chun-Yu Wei Jenn-Hwai Yang Erh-Chan Yeh Ming-Fang Tsai Hsiao-Jung Kao Chen-Zen Lo Lung-Pao Chang Wan-Jia Lin Feng-Jen Hsieh Saurabh Belsare Anand Bhaskar Ming-Wei Su Te-Chang Lee Yi-Ling Lin Fu-Tong Liu Chen-Yang Shen Ling-Hui Li Chien-Hsiun Chen Jeffrey D. Wall Jer-Yuarn Wu Pui-Yan Kwok Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
description	Abstract Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from 1492 individuals and genome-wide SNP data from 103,106 individuals of Han Chinese ancestry using custom SNP arrays. Principal components analysis of the genotyping data showed that the full range of Han Chinese genetic variation was found in the cohort. The arrays also include thousands of known functional variants, allowing for simultaneous ascertainment of Mendelian disease-causing mutations and variants that affect drug metabolism. We found that 21.2% of the population are mutation carriers of autosomal recessive diseases, 3.1% have mutations in cancer-predisposing genes, and 87.3% carry variants that affect drug response. We highlight how TWB data provide insight into both population history and disease burden, while showing how widespread genetic testing can be used to improve clinical care.
format	article
author	Chun-Yu Wei Jenn-Hwai Yang Erh-Chan Yeh Ming-Fang Tsai Hsiao-Jung Kao Chen-Zen Lo Lung-Pao Chang Wan-Jia Lin Feng-Jen Hsieh Saurabh Belsare Anand Bhaskar Ming-Wei Su Te-Chang Lee Yi-Ling Lin Fu-Tong Liu Chen-Yang Shen Ling-Hui Li Chien-Hsiun Chen Jeffrey D. Wall Jer-Yuarn Wu Pui-Yan Kwok
author_facet	Chun-Yu Wei Jenn-Hwai Yang Erh-Chan Yeh Ming-Fang Tsai Hsiao-Jung Kao Chen-Zen Lo Lung-Pao Chang Wan-Jia Lin Feng-Jen Hsieh Saurabh Belsare Anand Bhaskar Ming-Wei Su Te-Chang Lee Yi-Ling Lin Fu-Tong Liu Chen-Yang Shen Ling-Hui Li Chien-Hsiun Chen Jeffrey D. Wall Jer-Yuarn Wu Pui-Yan Kwok
author_sort	Chun-Yu Wei
title	Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
title_short	Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
title_full	Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
title_fullStr	Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
title_full_unstemmed	Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
title_sort	genetic profiles of 103,106 individuals in the taiwan biobank provide insights into the health and history of han chinese
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/3593b2764afa4ac58f96065a27161ace
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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

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