Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Huayun Hou, Kyoko E. Yuki, Gregory Costain, Anna Szuto, Sierra Barnes, Arun K Ramani, Alper Celik, Michael Braga, Meagan Gloven-Brown, Dimitri James Stavropoulos, Sarah C. Bowdin, Ronald D. Cohn, Roberto Mendoza‐Londono, Stephen W. Scherer, Michael Brudno, , Lianna G. Kyriakopoulou
This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.
npj Genomic Medicine · Jul 1, 2025Peer-reviewedGenetic & Genomic Medicine