Dr. Kwok, Pui-Yan 's publons link picture

Dr. Kwok, Pui-Yan

Emeritus Research Fellow
Academician, Academia Sinica
  • 02-2789-9143 (Lab) (Room No: N618)
  • 02-2652-3001 (Office)
  • 02-2789-9104
  • 02-2782-5573 (Fax)

Specialty:
  • Human genetics
  • Genomics
  • DNA sequence variation
  • Complex trait analysis,
  • Pharmacogenetics
  • Biotechnology

Education and Positions:
    • M.D. University of Chicago, Chicago, Pritzker School of Medicine, IL
    • Ph.D. University of Chicago, Chicago, IL

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

Dr. Kwok, Pui-Yan
NPJ Genomic Medicine, Feb 11, 2021

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.