https://scholars.lib.ntu.edu.tw/handle/123456789/525057
標題: | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes | 作者: | Kuo C.-W. WUH-LIANG HWU YIN-HSIU CHIEN Hsu C. Hung M.-Z. Lin I.-L. FEI-PEI LAI NI-CHUNG LEE |
關鍵字: | incidental finding; Taiwanese; whole-exome sequencing | 公開日期: | 2020 | 出版社: | Wiley-Blackwell | 卷: | 8 | 期: | 10 | 起(迄)頁: | e1455 | 來源出版物: | Molecular Genetics and Genomic Medicine | 摘要: | Background: Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the ACMG 59 gene list and the frequency of these variants in the Taiwanese population. Methods: This study screened 161 Taiwanese exomes for variants from the ACMG 59 gene list. The identified variants were reviewed based on information from different databases and the available literature and classified according to the ACMG standard guidelines. Results: We identified seven pathogenic/likely pathogenic variants in eight individuals, with five participants with autosomal recessive variants in one allele and three participants with autosomal dominant variants. Approximately 1.86% (3/161) of the Taiwanese individuals had a reportable pathogenic/likely pathogenic variant as determined by whole-exome sequencing (WES), which was comparable to the proportions published previously in other countries. We further investigated the high carrier rate of rare variants in the ATP7B gene, which might indicate a founder effect in our population. Conclusion: This study was the first to provide Taiwanese population data of incidental findings and emphasized a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85089364871&doi=10.1002%2fmgg3.1455&partnerID=40&md5=13b06c78efbff1dc05226be8357852e2 https://scholars.lib.ntu.edu.tw/handle/123456789/525057 |
ISSN: | 2324-9269 | DOI: | 10.1002/mgg3.1455 | SDG/關鍵字: | ATP7B protein, human; copper exporting adenosine triphosphatase; gene frequency; genetics; human; mutation; population; Taiwan; whole exome sequencing; Copper-Transporting ATPases; Gene Frequency; Humans; Mutation; Population; Taiwan; Whole Exome Sequencing |
顯示於: | 醫學系 |
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