Open Access

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

  • Published online on: May 12, 2021     https://doi.org/10.3892/etm.2021.10185
  • Article Number: 753
  • Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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July-2021
Volume 22 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

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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