Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples
Abstract Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective quality control system for sample identification and tracking throughout the WES process is essential. We established a multiplex panel that inc...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | BMC Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12864-024-10052-4 |
| _version_ | 1797275788560564224 |
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| author | Yong Huang Yuanyuan Xiao Shengqiu Qu Jiaming Xue Lin Zhang Li Wang Weibo Liang |
| author_facet | Yong Huang Yuanyuan Xiao Shengqiu Qu Jiaming Xue Lin Zhang Li Wang Weibo Liang |
| author_sort | Yong Huang |
| collection | DOAJ |
| description | Abstract Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective quality control system for sample identification and tracking throughout the WES process is essential. We established a multiplex panel that included 22 coding single-nucleotide polymorphism (cSNP) loci. The personal identification and paternity identification abilities of the panel were evaluated, and a preliminary validation of the practical feasibility of the panel was conducted in a clinical WES case. These results indicate that the cSNP panel could be a useful tool for sample tracking in WES. |
| first_indexed | 2024-03-07T15:19:29Z |
| format | Article |
| id | doaj.art-ee59519a19e4414186171433b3d423be |
| institution | Directory Open Access Journal |
| issn | 1471-2164 |
| language | English |
| last_indexed | 2024-03-07T15:19:29Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomics |
| spelling | doaj.art-ee59519a19e4414186171433b3d423be2024-03-05T17:46:44ZengBMCBMC Genomics1471-21642024-02-0125111110.1186/s12864-024-10052-4Development of a coding SNP panel for tracking the origin of whole-exome sequencing samplesYong Huang0Yuanyuan Xiao1Shengqiu Qu2Jiaming Xue3Lin Zhang4Li Wang5Weibo Liang6West China Second University Hospital, Sichuan UniversityDepartment of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan UniversityDepartment of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan UniversityDepartment of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan UniversityKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of EducationKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of EducationDepartment of Forensic Genetics, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan UniversityAbstract Whole-exome sequencing (WES) is widely used to diagnose complex genetic diseases and rare conditions. The implementation of a robust and effective quality control system for sample identification and tracking throughout the WES process is essential. We established a multiplex panel that included 22 coding single-nucleotide polymorphism (cSNP) loci. The personal identification and paternity identification abilities of the panel were evaluated, and a preliminary validation of the practical feasibility of the panel was conducted in a clinical WES case. These results indicate that the cSNP panel could be a useful tool for sample tracking in WES.https://doi.org/10.1186/s12864-024-10052-4Coding single-nucleotide polymorphismsWhole-exome sequencingSample trackingPersonal identificationParentage test |
| spellingShingle | Yong Huang Yuanyuan Xiao Shengqiu Qu Jiaming Xue Lin Zhang Li Wang Weibo Liang Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples BMC Genomics Coding single-nucleotide polymorphisms Whole-exome sequencing Sample tracking Personal identification Parentage test |
| title | Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples |
| title_full | Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples |
| title_fullStr | Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples |
| title_full_unstemmed | Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples |
| title_short | Development of a coding SNP panel for tracking the origin of whole-exome sequencing samples |
| title_sort | development of a coding snp panel for tracking the origin of whole exome sequencing samples |
| topic | Coding single-nucleotide polymorphisms Whole-exome sequencing Sample tracking Personal identification Parentage test |
| url | https://doi.org/10.1186/s12864-024-10052-4 |
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