2020
DOI: 10.1038/s41436-019-0672-1
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Abstract: Purpose: 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.Methods: 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 high likelihood of having rare undiagnosed, susp… Show more

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Cited by 144 publications
(152 citation statements)
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References 32 publications
(41 reference statements)
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“…In cases where whole exome sequencing does not yield a diagnosis, transcriptomic analysis of relevant tissue has shown some promise [98][99][100][101]. In cases when the relevant tissue is inaccessible (which is the majority of cases in neurodevelopmental and psychiatric disorders), blood transcriptomics sequencing has been suggested as an alternative and was shown to be informative in 7.5-16.7% of cases [101,102]. However, many cases still remain undiagnosed, and it is reasonable to believe that transcriptomics sequencing from cells mimicking the relevant tissue by using stem cell-derived cultures would further increase this rate of diagnosis.…”
Section: Precision Medicinementioning
confidence: 99%
“…In cases where whole exome sequencing does not yield a diagnosis, transcriptomic analysis of relevant tissue has shown some promise [98][99][100][101]. In cases when the relevant tissue is inaccessible (which is the majority of cases in neurodevelopmental and psychiatric disorders), blood transcriptomics sequencing has been suggested as an alternative and was shown to be informative in 7.5-16.7% of cases [101,102]. However, many cases still remain undiagnosed, and it is reasonable to believe that transcriptomics sequencing from cells mimicking the relevant tissue by using stem cell-derived cultures would further increase this rate of diagnosis.…”
Section: Precision Medicinementioning
confidence: 99%
“…A correct evaluation of elusive splice variants, using bioinformatic tools and RNASeq, can result into a similar increase in the diag-nostic yield in most of the other rare genetic diseases. Similarly, the integration of RNAseq with genome sequencing has resulted in an improved diagnostic rate for a wide spectrum of undiagnosed Mendelian diseases [133]. Moreover, the availability of the most appropriate tissue for RNA extraction/analysis further increases the diagnostic rate [18,128].…”
Section: Rna Sequencing As Second Tier Testmentioning
confidence: 99%
“…A different approach, described by Lee and colleagues, is of the extreme interest [133]. Instead of analyzing the entire transcriptome to search for an outlier (as described in ref.…”
Section: Rna Sequencing As Second Tier Testmentioning
confidence: 99%
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