Splicing up the diagnosis: Using targeted RNA studies to reclassify exome sequencing variants
Take home points
Summarize our laboratory’s criteria for assessing variant eligibility for RNA studies
Describe a retrospective case series of ES probands that have benefited from RNA analysis over 5 years
Targeted RNA studies are a practical way to generate the evidence required for ES VUS resolution of carefully selected variants in the absence of transcriptome analysis.
Data collected by targeted RNA studies will provide valuable insight for future validation and interpretation of transcriptome data.