Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation

Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation

Despite increased use of whole exome sequencing (WES) for the clinical analysis of rare disease, overall diagnostic yield for most disorders hovers around 30%. Previous studies of mRNA have succeeded in increasing diagnoses for clearly defined disorders of monogenic inheritance. We asked if targeted...

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Bibliographic Details
Main Authors: Kiera Berger, Dalia Arafat, Shanmuganathan Chandrakasan, Scott B. Snapper, Greg Gibson
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Journal of Personalized Medicine
Subjects:
RNAseq
very early-onset inflammatory bowel disease
primary immune deficiencies
splicing
rare disease
Online Access:https://www.mdpi.com/2075-4426/12/6/919

Internet

https://www.mdpi.com/2075-4426/12/6/919

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