Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Despite advances in diagnostic testing and genome sequencing, the majority of individuals
with rare genetic disorders remain undiagnosed. As a complement to genome sequencing …
with rare genetic disorders remain undiagnosed. As a complement to genome sequencing …
Implementing a consultation service for translating genomic research findings into the clinic: lessons from the SickKids Genome Board
A Pan, K Pulsifer, M Axford, L Dolman, B Gallinger… - medRxiv, 2024 - medrxiv.org
Objectives Genome-wide sequencing (GWS) is now used across the breadth of paediatric
research. There is a greater potential to identify unexpected, clinically relevant findings with …
research. There is a greater potential to identify unexpected, clinically relevant findings with …