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Abstract

July to September 2019 | Vol. 12 | Issue 3 | 18-19
Exome to Genome Sequencing: Re-look Before You Leap!!
Amita Moirangthem
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Address for Correspondence Email: amis.72000@gmail.com
 
Abstract
The widespread use of exome sequencing (ES) in clinical practice has revolutionized the diagnosis of Mendelian disorders. But 50 to 75% of patients undergoing ES still remain without a diagnosis. Whole genome sequencing is an option to fill this lacuna and has been reported to increase the detection rate by 15%. However, limitations like availability, costs and data mining challenges preclude its widespread clinical use at present. Nambot et al. studied the impact of re-analysis of WES data in a cohort of 416 patients with congenital anomalies and intellectual disability. The raw data of 156 patients with no conclusive diagnosis were re-analyzed with the latest bioinformatics pipeline. This exercise was done annually over a period of 3 years. They could detect a disease-causing variant in 24 (15.4%) additional patients. Twelve of these were attributed to new publications, reclassification of initially identified uncertain variants or detection of copy number variants. The other twelve patients were diagnosed through international data sharing and collaboration. This also yielded five novel genes.
 
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