Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
Abstract 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 i...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1455 |
| _version_ | 1827198114020196352 |
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| author | Chieh‐Wen Kuo Wuh‐Liang Hwu Yin‐Hsiu Chien Ching Hsu Miao‐Zi Hung I‐Lin Lin Feipei Lai Ni‐Chung Lee |
| author_facet | Chieh‐Wen Kuo Wuh‐Liang Hwu Yin‐Hsiu Chien Ching Hsu Miao‐Zi Hung I‐Lin Lin Feipei Lai Ni‐Chung Lee |
| author_sort | Chieh‐Wen Kuo |
| collection | DOAJ |
| description | Abstract 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. |
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| format | Article |
| id | doaj.art-8abbf9b9c4844a10bf37f0490d30a352 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2025-03-21T10:11:52Z |
| publishDate | 2020-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-8abbf9b9c4844a10bf37f0490d30a3522024-07-04T06:31:52ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-10-01810n/an/a10.1002/mgg3.1455Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesChieh‐Wen Kuo0Wuh‐Liang Hwu1Yin‐Hsiu Chien2Ching Hsu3Miao‐Zi Hung4I‐Lin Lin5Feipei Lai6Ni‐Chung Lee7College of Medicine National Taiwan University Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei TaiwanGraduate Institute of Biomedical Electronics and Bioinformatics National Taiwan University Taipei TaiwanDepartment of Medical Genetics National Taiwan University Hospital Taipei TaiwanDepartment of Medical Genetics National Taiwan University Hospital Taipei TaiwanGraduate Institute of Biomedical Electronics and Bioinformatics National Taiwan University Taipei TaiwanDepartment of Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei TaiwanAbstract 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.https://doi.org/10.1002/mgg3.1455incidental findingTaiwanesewhole‐exome sequencing |
| spellingShingle | Chieh‐Wen Kuo Wuh‐Liang Hwu Yin‐Hsiu Chien Ching Hsu Miao‐Zi Hung I‐Lin Lin Feipei Lai Ni‐Chung Lee Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes Molecular Genetics & Genomic Medicine incidental finding Taiwanese whole‐exome sequencing |
| title | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes |
| title_full | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes |
| title_fullStr | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes |
| title_full_unstemmed | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes |
| title_short | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes |
| title_sort | frequency and spectrum of actionable pathogenic secondary findings in taiwanese exomes |
| topic | incidental finding Taiwanese whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.1455 |
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