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Clinical application of whole-exome sequencing: A retrospective, single-center study

  • Authors:
    • Qiang Zhang
    • Zailong Qin
    • Shang Yi
    • Hao Wei
    • Xun Zhao Zhou
    • Jiasun Su
  • View Affiliations / Copyright

    Affiliations: Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530000, P.R. China
    Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 753
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    Published online on: May 12, 2021
       https://doi.org/10.3892/etm.2021.10185
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Abstract

The aim of the present study was to assess the practical diagnostic value of whole-exome sequencing (WES) in patients with different phenotypes and to explore possible strategies to increase the capability of WES in identifying disease‑causing genes. A total of 1,360 patients (aged from 1 day to 42 years old) with manifestations of genetic diseases were genotyped using WES and statistical analysis was performed on the results obtained. Within this cohort, the overall positive rate of identification of a disease‑causing gene alteration was 44.41%. The positive identification rate where trio‑samples were used (from the proband and both parents) was higher than that where a single proband sample was used (50.00 vs. 43.71%), and 604 positive cases with 150 genetic syndromes, 510 genes and 718 mutations were detected. Missense mutations were the most common variations (n=335, 45.27%) and visual or auditory abnormalities (58.51%) had the highest rate of association with a genetic abnormality. The positive detection rate of WES was elevated with the increase in the number of clinical symptoms from 1 to 8. The present study indicated that WES may be used as a valuable tool in the clinic and the positive rate depends more on the professional experience of clinicians rather than on the analytical capabilities of the data analyst. At the same time, particular attention must be paid to certain possible factors (such as the age of the patients as well as possible exon deletions), which may affect the diagnostic rate while applying this process.
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Copy and paste a formatted citation
Spandidos Publications style
Zhang Q, Qin Z, Yi S, Wei H, Zhou XZ and Su J: Clinical application of whole-exome sequencing: A retrospective, single-center study. Exp Ther Med 22: 753, 2021.
APA
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X.Z., & Su, J. (2021). Clinical application of whole-exome sequencing: A retrospective, single-center study. Experimental and Therapeutic Medicine, 22, 753. https://doi.org/10.3892/etm.2021.10185
MLA
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X. Z., Su, J."Clinical application of whole-exome sequencing: A retrospective, single-center study". Experimental and Therapeutic Medicine 22.1 (2021): 753.
Chicago
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X. Z., Su, J."Clinical application of whole-exome sequencing: A retrospective, single-center study". Experimental and Therapeutic Medicine 22, no. 1 (2021): 753. https://doi.org/10.3892/etm.2021.10185
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang Q, Qin Z, Yi S, Wei H, Zhou XZ and Su J: Clinical application of whole-exome sequencing: A retrospective, single-center study. Exp Ther Med 22: 753, 2021.
APA
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X.Z., & Su, J. (2021). Clinical application of whole-exome sequencing: A retrospective, single-center study. Experimental and Therapeutic Medicine, 22, 753. https://doi.org/10.3892/etm.2021.10185
MLA
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X. Z., Su, J."Clinical application of whole-exome sequencing: A retrospective, single-center study". Experimental and Therapeutic Medicine 22.1 (2021): 753.
Chicago
Zhang, Q., Qin, Z., Yi, S., Wei, H., Zhou, X. Z., Su, J."Clinical application of whole-exome sequencing: A retrospective, single-center study". Experimental and Therapeutic Medicine 22, no. 1 (2021): 753. https://doi.org/10.3892/etm.2021.10185
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