Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
| Autor: | Jenn-Hwai Yang, Saurabh Belsare, Yi-Ling Lin, Feng-Jen Hsieh, Ling-Hui Li, Jer-Yuarn Wu, Chen-Zen Lo, Wan-Jia Lin, Jeffrey D. Wall, C. M. Wei, Fu-Tong Liu, Hsiao-Jung Kao, Chien-Hsiun Chen, Te-Chang Lee, Anand Bhaskar, Pui-Yan Kwok, Lung-Pao Chang, Ming-Wei Su, Erh-Chan Yeh, Chen-Yang Shen, Ming-Fang Tsai |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Population genetics Population QH426-470 Biology Article 03 medical and health sciences symbols.namesake 0302 clinical medicine Genetic variation medicine Genetics 2.1 Biological and endogenous factors SNP Aetiology education Molecular Biology Genotyping Genetics (clinical) Genetic testing education.field_of_study medicine.diagnostic_test Human Genome Biobank Good Health and Well Being 030104 developmental biology Mutation (genetic algorithm) Mendelian inheritance symbols Medicine Generic health relevance 030217 neurology & neurosurgery Biotechnology |
| Zdroj: | NPJ Genomic Medicine npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021) NPJ genomic medicine, vol 6, iss 1 |
| ISSN: | 2056-7944 |
| Popis: | 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: | OpenAIRE |
| Externí odkaz: |
|