Genetic & Genomic MedicinemedRxivPreprint
RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
Jordy Dekker, Rachel Schot, Michiel Bongaerts…·Tjakko J. van Ham
This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.
3 citations