Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

Abstract Background RNA sequencing (RNA-seq) is emerging as a valuable tool for identifying disease-causing RNA transcript aberrations that cannot be identified by DNA-based testing alone. Previous studies demonstrated some success in utilizing RNA-seq as a first-line test for rare inborn genetic co...

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Main Authors: Jamie C. Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Megan A. Dickson, Kyoko E. Yuki, Huayun Hou, Sydney Scholten, Kenzie Pulsifer, Meryl Acker, Meredith Laver, Harsha Murthy, Olivia M. Moran, Emily Bonnell, Nicole Liang, Jashanpreet Sidhu, Lucie Dupuis, Mohammad M. Ghahramani Seno, Care4Rare Canada Consortium, Marisa Chard, Rebekah K. Jobling, Jessie Cameron, Rose Chami, Michal Inbar-Feigenberg, Michael D. Wilson, David A. Chitayat, Kym M. Boycott, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Christian R. Marshall, James J. Dowling, Gregory Costain, Ashish R. Deshwar
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Genome Medicine
Subjects:
RNA sequencing (RNA-seq)
Pediatric rare disease
Genetic disease
Molecular diagnostic techniques
Variant of uncertain significance
Putative (new) disease gene
Online Access:https://doi.org/10.1186/s13073-025-01494-w
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