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Abstract

April to June 2018 | Vol. 11 | Issue 2 | 18-19
Whole Genome Sequencing as a Diagnostic Tool: Utility and Challenges
Amrita Bhattacherjee
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for Correspondence Email: lookamrita@gmail.com
 
Abstract
With the recent technical developments in analyzing big data, whole genome sequencing has unlocked a whole new way in clinical genomics to evaluate various rare diseases, including the highly heterogenous group of inherited retinal diseases (IRD). Illumina Hiseq sequencing has given it a new direction through its high coverage and accuracy to identify and validate a particular variant more confidently than the ABI SOLiD platform. Whole Genome Sequencing (WGS) was performed in 46 individuals out of 562 patients with IRD for whom diagnostic Next Generation Sequencing (NGS) did not identify any mutation. The study also compared the sensitivity and specificity of WGS and diagnostic NGS in detecting Single Nucleotide Variations. By using WGS, it was possible to detect disease-causing variants in 11 individuals for whom a molecular diagnosis was not made previously. The authors concluded that WGS reported a higher rate of mutation detection as WGS had a more powerful pipeline to detect structural variants and variants in noncoding regions. The deletions identified with the pipeline ranged from <1.7 Kb to >520 Kb in size, including the identification of break points in noncoding regions. This study highlights the benefit of WGS as a superior tool compared to diagnostic NGS for evaluation of IRD patients if the cost factor can be minimized.
 
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