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Abstract

January - March 2024 | Vol. 17 | Issue 1 | 13-14
What Diagnoses Are Missed in Next-Generation Sequencing
Katta M Girisha
Department of Genetics, Sultan Qaboos University, Muscat, Oman.
Address for Correspondence Email: g.kumar@squ.edu.om
 
Abstract
Exome sequencing is quite popular among the clinicians for diagnosis of rare Mendelian disorders but is often non-diagnostic even when we have a strong clinical suspicion of a monogenic disorder. A proportion of them are solved by whole genome sequencing. Some families still remain undiagnosed with detection of only one of the two variants necessary to confirm the diagnosis of an autosomal recessive disorder. Let us look into some of the recent publications that have solved this problem in some families by identifying the variants that usually escape detection in next-generation sequencing (NGS).
 
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