Reappearance of a melted ancestral origin of Chinese in modern Taiwanese- the use of Taiwan Biobank

Abstract

The Taiwan Biobank is a scientific infrastructure accessible to biomedical researchers aimed at furthering understanding of the relationships between environmental exposure, diet, genetics, and the aetiology and progression of chronic disease. Through the recruitment and follow-up of a cohort of 200,000 individuals from the general population with no history of cancer and a cohort of 100,000 patients with chronic diseases of public health importance from medical centres, the Taiwan Biobank aims to improve the health of future generations and facilitate genomic/epigenomic research in the post-genomic era. Currently, more than 56,000 participants from different regions of Taiwan have been recruited, and more than 1,300,000 biospecimens, including blood, urine, and DNA, have been collected. Electronic, structured questionnaires have been administrated to collect comprehensive information on risk factors, dietary patterns, lifestyle, and family history of diseases. Physical examinations and biochemical measurements have been performed. Whole-genome genotyping of more than 12,000 individuals using a chip designed by the Taiwan Biobank, which contains 653,291 single-nucleotide polymorphisms, has been performed, and whole-genome sequencing of 1,000 individuals has been completed in October 2015. One example of the use of the valuable information contained in the Taiwan Biobank is the detection of 41 loci significantly associated with genetic susceptibility to type II diabetes and the development of a predictive model for type II diabetes based on these loci as well as risk factors. This predictive model has satisfactory accuracy (area under the receiver operating characteristic curve = 0.88). The information and specimens contained in the Taiwan Biobank have been made publicly available. The goal is to develop personalised medicine in which progressive elucidation of risk factors and molecular pathogenesis of disease will improve disease prevention and facilitate therapy development for individuals and generations to come.