Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Volume: 22, Issue: 3, Pages: 490 - 499
Published: Mar 1, 2020
Abstract
We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications. From 234 subjects referred to the Undiagnosed Diseases Network, University of California–Los Angeles clinical site between July 2014 and August 2018, 113 were enrolled for...
Paper Details
Title
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Published Date
Mar 1, 2020
Volume
22
Issue
3
Pages
490 - 499
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