Review
Version 1
Preserved in Portico This version is not peer-reviewed
Utility of Whole-Exome Sequencing in Pediatric and Medical Diagnosis
Version 1
: Received: 28 December 2020 / Approved: 29 December 2020 / Online: 29 December 2020 (16:47:01 CET)
How to cite: Fareed, M.; Sharma, V.; Singh, H. Utility of Whole-Exome Sequencing in Pediatric and Medical Diagnosis. Preprints 2020, 2020120738. https://doi.org/10.20944/preprints202012.0738.v1 Fareed, M.; Sharma, V.; Singh, H. Utility of Whole-Exome Sequencing in Pediatric and Medical Diagnosis. Preprints 2020, 2020120738. https://doi.org/10.20944/preprints202012.0738.v1
Abstract
Genetic disorders are preeminent determinants of infant mortality. The inherited pediatric-onset genetic disorders have consequential stress on child growth and development: several congenital, complex and rare disorders with indistinguishable clinical symptoms where diagnosis always remains a challenging task. Traditional diagnosis methods include biochemical tests followed by chromosomal microarray and sequencing of a single gene or panel of genes. These methods had several limitations, but with the advent of whole-exome sequencing (WES), genetic testing has become cost-effective and transformative. Exome sequencing has been known for its effectiveness, which appropriately elucidates and distinguishes the heterogeneous disorders to avoid misdiagnosis and decode the underlying genetic alterations. WES has led to discovering genes and genomic variants in a broad spectrum of diseases, including autism, epilepsy, congenital heart diseases, neurodevelopmental diseases, cancer, nephrotic disorders, neural tube defects and fetal structural anomalies. WES is significant in producing immense genomic biomarkers that can be made as appropriate pharmacogenomic targets for drug therapy. In this article, we analyze the recent exploration of WES technology to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and targeted drug discovery.
Keywords
Next generation sequencing; Genetic disorders; Genomic medicine; Genetic counseling; Rare diseases
Subject
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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