Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
40593860 (PubMed )
Supplement: 41525_2025_505_MOESM3_ESM.xlsx › Table_of_phenotypes
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L et al.
Human Mutation, 2019
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G et al.
European Journal of Human Genetics : Ejhg, 2018
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.
Pal LR et al.
Human Mutation, 2017
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