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

Autor:	Wei CY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Yang JH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Yeh EC; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Tsai MF; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Kao HJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Lo CZ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Chang LP; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Lin WJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Hsieh FJ; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Belsare S; Institute for Human Genetics, University of California, San Francisco, CA, USA., Bhaskar A; Department of Genetics, Stanford University, Stanford, CA, USA., Su MW; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Lee TC; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Lin YL; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Liu FT; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Shen CY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Li LH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Chen CH; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Wall JD; Institute for Human Genetics, University of California, San Francisco, CA, USA., Wu JY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Kwok PY; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. pykwok@ibms.sinica.edu.tw.; Institute for Human Genetics, University of California, San Francisco, CA, USA. pykwok@ibms.sinica.edu.tw.
Jazyk:	angličtina
Zdroj:	NPJ genomic medicine [NPJ Genom Med] 2021 Feb 11; Vol. 6 (1), pp. 10. Date of Electronic Publication: 2021 Feb 11.
DOI:	10.1038/s41525-021-00178-9
Abstrakt:	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.
Databáze:	MEDLINE
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