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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Detalles Bibliográficos
Autores principales: Berger, Kiera, Arafat, Dalia, Chandrakasan, Shanmuganathan, Snapper, Scott B., Gibson, Greg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224647/
https://www.ncbi.nlm.nih.gov/pubmed/35743704
http://dx.doi.org/10.3390/jpm12060919

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224647/
https://www.ncbi.nlm.nih.gov/pubmed/35743704
http://dx.doi.org/10.3390/jpm12060919

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