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April-June 2017 | Vol. 10 | Issue 2 | Page No 5-10
Exome Data Analysis for Clinicians: How and Why
Aneek Das Bhowmik and Ashwin Dalal
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for Correspondence Email: adalal@cdfd.org.in
Exome sequencing is a next generation sequencing (NGS) technology where only the coding regions of the genome (known as exome) are sequenced. The technology involves two major steps: capturing the exonic region of DNA that encodes proteins, constituting about 1% of the human genome (≈30 Mbps) and then sequencing these regions using high throughput massively parallel DNA sequencing technology. The idea is to identify the genetic variants that alter protein sequences at a much lower cost than whole genome sequencing (WGS).
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