Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
In: Molecular Genetics & Genomic Medicine ; volume 8, issue 10 ; ISSN 2324-9269, 2020
academicJournal
Zugriff:
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.
Titel: |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
|
---|---|
Autor/in / Beteiligte Person: | Kuo, Chieh‐Wen ; Hwu, Wuh‐Liang ; Chien, Yin‐Hsiu ; Hsu, Ching ; Hung, Miao‐Zi ; Lin, I‐Lin ; Lai, Feipei ; Lee, Ni‐Chung ; Ministry of Science and Technology, Taiwan |
Link: | |
Zeitschrift: | Molecular Genetics & Genomic Medicine ; volume 8, issue 10 ; ISSN 2324-9269, 2020 |
Veröffentlichung: | Wiley, 2020 |
Medientyp: | academicJournal |
DOI: | 10.1002/mgg3.1455 |
Schlagwort: |
|
Sonstiges: |
|