Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: applications to cardiovascular medicine
Journal
Journal of Advanced Research
Journal Volume
30
Pages
147-158
Date Issued
2020-05
Author(s)
Su, Ming-Wei
Lin, Chien-Wei
Yang, Jenn-Hwai
Chu, Hou-Wei
Chen, Chien-Hsiun
Hsiao, Yi-Wen
Lee, Chien-Yueh
Chiang, Li-Mei
Yu, Qi-You
Julius Chen, Ching-Yu
Wu, Pei-Ei
Pai, Chien-Hua
Shen, Chen-Yang
Abstract
Introduction: A population-specific genomic reference is important for research and clinical practice, yet it remains unavailable for Han Chinese (HC) in Taiwan. Objectives: We report the first whole genome sequencing (WGS) database of HC (1000 Taiwanese genome (1KTW-WGS)) and demonstrate several applications to cardiovascular medicine. Methods: Whole genomes of 997 HC were sequenced to at least 30X depth. A total of 20,117 relatively healthy HC individuals were genotyped using a customized Axiom GWAS array. We performed a genome-wide genotype imputation technique using IMPUTE2. Results: ) involved in drug metabolism and blood clotting. Conclusion: This research demonstrates the benefits of constructing a population-specific genomic reference database for precision medicine.
SDGs
Publisher
Elsevier B.V.
Type
journal article