Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

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Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Exp Eye Res. 2017 Aug 24;:

Authors: Gupta S, Chatterjee S, Mukherjee A, Mutsuddi M

Identification of causal genetic defects for hereditary human diseases took a significant leap when the first generation DNA sequencing technologies enabled biologists extract sequence-based genetic information from living beings. However, these sequencing methods had unavoidable constraints of throughput, scalability, rapidity, and resolution. In this direction, next-generation sequencing (NGS) since the time of its advent has revolutionized the process of gene discovery for both monogenic and multifactorial genetic diseases. Among several variations of NGS, whole exome sequencing (WES) has emerged as a smart strategy that enables identification of disease causing variants present within the coding region of the human genome. The current review focuses primarily on the application of WES in identification of causal variants for ocular diseases. WES has successfully revealed pathogenic mutations in a variety of ocular diseases such as retinal degenerations, refractive errors, lens diseases, corneal dystrophies, and developmental ocular defects. It has demonstrated immense potential for molecular diagnosis of hereditary ocular diseases. WES has been extensively used in Mendelian and complex cases, familial and sporadic cases, simplex and large families, and syndromic and non-syndromic cases of ocular diseases. Although many such ocular diseases have been investigated using WES, reports indicate that it has been employed overwhelmingly for heterogeneous retinal degenerations. WES, within a short period of time, has proved to be a cost-effective and promising approach for understanding the genetic basis of ocular diseases.

PMID: 28844620 [PubMed – as supplied by publisher]

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