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RNA and reclassification: Assessing RNA data in rare disease

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

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
Poster Abstract