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Article

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

Experimental eye research - 1 Nov 2017

Gupta Shashank, Chatterjee Souradip, Mukherjee Ashim, Mutsuddi Mousumi

Abstract excerpt

Identification of causal genetic defects for 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...

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Identifiers

PMID: 28844620
DOI: 10.1016/j.exer.2017.08.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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