Exome & General Genetics

Session # P290

RNA and reclassification: Assessing RNA data in rare disease

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Presenting Author: Catherine Schultz, MS, CGC

Take home point: 

  1. RNA data is complex to asses and requires expertise Splicing impacts can, but do not always, lead to variant reclassification RNA combined with ES offers potential for increasing diagnostic yield of ES

  • Authors: Grace VanNoy; Jessica Gage; Jessica Grzybowski; Shoji Ichikawa; Emily Kudalkar; Catherine Schultz; Jesus Ramirez Castano; Brooklynn Gasser; Melissa Holman; Carrie Horton; Kevin Lam; Melissa Samons; Marcy E. Richardson; Heather Zimmermann
  • Conference: ACMG 2025
  • Date: Friday, Mar 21, 2025 10:30am - 11:30am
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