دورية أكاديمية
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.
| العنوان: | High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases. |
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| المؤلفون: | Zeng Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Ding H; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang X; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Huang Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liu L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Du L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Lu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zeng Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Mai M; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zhu J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yu L; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., He W; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Guo F; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Peng H; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yao C; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Qi Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liu Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Li F; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Yang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Hu R; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Liang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang J; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Wang W; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China., Zhang Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China. zhangyan1981_2003@aliyun.com.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China. zhangyan1981_2003@aliyun.com.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China. zhangyan1981_2003@aliyun.com., Yin A; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China. yinaiwa@vip.126.com.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China. yinaiwa@vip.126.com.; Guangzhou Key Laboratory of Prenatal Screening and Prenatal Diagnosis, Guangzhou, China. yinaiwa@vip.126.com. |
| المصدر: | Journal of translational medicine [J Transl Med] 2024 Jul 09; Vol. 22 (1), pp. 644. Date of Electronic Publication: 2024 Jul 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BioMed Central, 2003- |
| مواضيع طبية MeSH: | DNA Copy Number Variations*/genetics , Exome Sequencing* , Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics, Humans ; Reproducibility of Results ; Female ; Predictive Value of Tests ; Male ; Retrospective Studies |
| مستخلص: | Background: Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using CES in a substantial clinical cohort, including parent-offspring trios and proband only analysis. Methods: We conducted a retrospective analysis of CES data from 2428 families, collected from 2018 to 2021. Detected CNV were categorized as large or small, and various validation techniques including chromosome microarray (CMA), Multiplex ligation-dependent probe amplification assay (MLPA), and/or PCR-based methods, were employed for cross-validation. Results: Our CNV discovery pipeline identified 171 CNV events in 154 cases, resulting in an overall detection rate of 6.3%. Validation was performed on 113 CNVs from 103 cases to assess CES reliability. The overall concordance rate between CES and other validation methods was 88.49% (100/113). Specifically, CES demonstrated complete consistency in detecting large CNV. However, for small CNVs, consistency rates were 81.08% (30/37) for deletions and 73.91% (17/23) for duplications. Conclusion: CES demonstrated high sensitivity and reliability in CNV detection. It emerges as an economical and dependable option for the clinical CNV detection in cases of developmental abnormalities, especially fetal structural abnormalities. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | 202103000047 Basic and Applied Basic Research Foundation of Guangdong Province; 202102080263 Basic and Applied Basic Research Foundation of Guangdong Province; 2022A1515220097 National Natural Science Foundation of China-Guangdong Joint Fund; 82171856 National Natural Science Foundation of China; 202102080358 Guangzhou Municipal Science and Technology Program key projects |
| فهرسة مساهمة: | Keywords: Chromosome microarray; Copy number variations; Exome sequencing; Multiplex ligation-dependent probe amplification assay; Real-time quantitative polymerase chain reaction |
| تواريخ الأحداث: | Date Created: 20240709 Date Completed: 20240710 Latest Revision: 20240712 |
| رمز التحديث: | 20240712 |
| مُعرف محوري في PubMed: | PMC11234535 |
| DOI: | 10.1186/s12967-024-05468-1 |
| PMID: | 38982507 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1479-5876 |
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| DOI: | 10.1186/s12967-024-05468-1 |