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Abstract

April to June 2020 | Vol. 13 | Issue 2 | Page 13-14
Beyond Exome: Fishing for Answers in the ExpansiveOcean of "Omics"!
Shagun Aggarwal

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad & Centre for DNA Fingerprinting & Diagnostics, Hyderabad
Address for Correspondence Email: shagun.genetics@gmail.com
Abstract
Schluth-Bolard et al. report a study of 55 patients with developmental disorders and balanced chromosomal rearrangements where Whole genome paired end sequencing was done to look for pathogenic events that could explain the abnormal phenotypes. Gene expression analysis of disrupted & surrounding genes, and disruption of topology associated domains was also taken into account for analysis. Forty-nine out of 55 of the rearrangements could be detected using WGS. Molecular signatures at breakpoints indicated that most events arose randomly with non-homologous end joining being the main mechanism. Twenty-two patients achieved a diagnosis, of which 15 had a gene disruption and 7 showed a position effect. Authors were also able to discover 16 novel candidate genes using this approach. The authors conclude by saying that paired end WGS can be used for structural variant characterisation in clinical settings
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