Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

Several patients with rare genetic disorders remain undiagnosed following comprehensive diagnostic testing using whole-exome sequencing (WES). In these patients, pathogenic genetic variants may reside in intronic or regulatory regions or they may emerge through mutational mechanisms not detected by...

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Bibliographic Details
Main Authors: Gaber Bergant, Aleš Maver, Borut Peterlin
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Life
Subjects:
whole-genome sequencing
exome sequencing
bioinformatics
repeat expansion
retrotransposition
diagnostic yield
Online Access:https://www.mdpi.com/2075-1729/11/3/205

Internet

https://www.mdpi.com/2075-1729/11/3/205

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