Dr. Kwok, Pui-Yan ’s Lab郭沛恩 博士 實驗室


Our research focuses on developing tools for genetic analysis of whole genomes, applying these tools to predict disease risk in patients and elucidate the genetic factors associated with human diseases.  In particular, we are pursuing three lines of research in the rapidly evolving fields of “precision medicine” and “genomic medicine.  First, we are partnering with collaborators at medical centers across Taiwan and use the “full genome analysis” approach to study patients with rare diseases.  “Full genome analysis” combines whole genome sequencing and genome mapping to produce phased and assembled genome sequences for patient diagnosis.  Second, we are defining the genomic landscape of the Taiwan population by producing fully assembled genome sequences of several hundred people from across the country.  With these high-quality reference genomes, we are establishing the haplotype patterns of the population at every locus across the genome.  Third, we are partnering with medical centers across the country in the Taiwan Precision Medicine Initiative to obtain genetic profiles and clinical data of one million people and use the data to build algorithms for disease risk prediction in each individual.  Once established, the algorithms can be used for disease risk prediction in all Han Chinese across the world.



Dr. Kwok, Pui-Yan
郭沛恩 博士

Distinguished Research Fellow and Director
特聘研究員 兼所長
Academician, Academia Sinica

M.D. University of Chicago, Chicago, Pritzker School of Medicine, IL Ph.D. University of Chicago, Chicago, IL
  • TEL(office):02-2652-3001
  • TEL(lab):02-2789-9143 (Room No: N618)
  • 02-2789-9104
  • FAX:02-2782-5573

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


Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
NPJ Genomic Medicine, Feb 11, 2021
Towards a reference genome that captures global genetic diversity
Nature Communications, Oct 30, 2020
De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome
Human Mutation, Jul 09, 2020