Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Author:
Funder
National Institutes of Health
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/141500/files/pdf
Reference52 articles.
1. Molecular diagnostic experience of whole-exome sequencing in adult patients
2. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
3. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
4. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
5. Genetic diagnosis of Mendelian disorders via RNA sequencing;Kremer;Nat Commun,2017
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