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Abstract

July - September 2022 | Vol. 15 | Issue 3 | 08-11
Variant of Uncertain Significance Identified in Exome Sequencing: What Next
Ashwin Dalal
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India
Address for Correspondence Email: ashwindalal@gmail.com
 
Abstract
Next-generation sequencing (NGS) has revolutionized the field of medicine, providing better tools for the diagnosis of genetic diseases. However, it has also thrown up new challenges like reporting of variants of uncertain significance (VUSs). All clinicians who order for a test based on NGS are likely to come across this entity. This article is an attempt to guide the clinician regarding the further steps to be planned once a VUS is identified in their patients.
 
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