https://scholars.lib.ntu.edu.tw/handle/123456789/639760
標題: | Complete genomic profiles of 1496 Taiwanese reveal curated medical insights | 作者: | Jacob Shujui Hsu Wu, Dung Chi Shih, Shang Hung Liu, Jen Feng Tsai, Ya Chen Lee, Tung Lin Chen, Wei An Tseng, Yi Hsuan Lo, Yi Chung Lin, Hong Ye Chen, Yi Chieh Chen, Jing Yi Chou, Ting Hsuan Chang, Darby Tien Hao Su, Ming Wei Guo, Wei Hong Mao, Hsin Hsiang CHIEN-YU CHEN PEI-LUNG CHEN |
關鍵字: | ACMG secondary finding V3 gene list | Carrier rates | Population allele frequency | Taiwan Biobank | Whole genome sequence | 公開日期: | 1-一月-2024 | 來源出版物: | Journal of Advanced Research | 摘要: | Introduction: The population of Taiwan has a long history of ethno-cultural evolution. The Taiwanese population was isolated from other large populations such as the European, Han Chinese, and Japanese population. The Taiwan Biobank (TWB) project has built a nationwide database, particularly for personal whole-genome sequence (WGS) to facilitate basic and clinical collaboration nationally and internationally, making it one of the most valuable public datasets of the East Asian population. Objectives: This study provides comprehensive medical genomic findings from TWB WGS data, for better characterization of disease susceptibility and the choice of ideal treatment regimens in Taiwanese population. Methods: We reanalyzed 1496 WGS using a PrecisionFDA Truth challenge winner method Sentieon DNAscope. Single nucleotide variants (SNV) and small insertions/deletions (INDEL) were benchmarked. We also analyzed pharmacogenomic (PGx) drug-associated alleles, and copy number variants (CNV). Multiple practicing clinicians reviewed and curated the clinically significant variants. Variant annotations can be browsed at TaiwanGenomes (https://genomes.tw). Results: We found that each participant had an average of 6,870.7 globally novel variants and 75.3% (831/1103) of the participants harbored at least one PharmGKB-selected high evidence level human leukocyte antigen (HLA) risk allele. 54 PharmGKB-reported high-level instances of evidence of Cytochrome P450 variant-drug pairs, with a population frequency of over 13.2%. We also identified 23 variants in the ACMG secondary finding V3 gene list from 25 participants, suggesting that 1.67% (25/1496) of the population is harboring at least one medical actionable variant. Our carrier status analyses suggest that one in 25 couples (3.94%) would risk having offspring with at least one pathogenic variant, which is in line with rates found in Japan and Singapore. For pathogenic CNV, we detected 6.88% and 2.02% carrier rates for alpha thalassemia and spinal muscular atrophy, respectively. Conclusion: Our study highlights the overall medical insights of a complete Taiwanese genomic profile. |
URI: | https://www.scopus.com/record/display.uri?eid=2-s2.0-85184723886&origin=resultslist https://scholars.lib.ntu.edu.tw/handle/123456789/639760 |
ISSN: | 20901232 | DOI: | 10.1016/j.jare.2023.12.018 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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