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Splicing up the diagnosis: Using targeted RNA studies to reclassify exome sequencing variants

Date:
Thursday, Oct 19, 2023 5:30pm – 7:00pm
Conference:
NSGC 2023
Authors:
Heather Zimmermann, Jessica Gage, Jessica Grzybowski, Jesus Ramirez Castano, Meghan Towne
  1. Take home points
    1. Summarize our laboratory’s criteria for assessing variant eligibility for RNA studies
    2. Describe a retrospective case series of ES probands that have benefited from RNA analysis over 5 years
    3. 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.
    4. Data collected by targeted RNA studies will provide valuable insight for future validation and interpretation of transcriptome data.
Abstract Poster