Comprehensive characterisation of non-coding and coding effects of de novo mutations in a large-scale rare disease case-control cohort
Trios from GEL, UKB & AllOfUs
Highlight RNU non coding variants & splice site
#ESHG2025
Comprehensive characterisation of non-coding and coding effects of de novo mutations in a large-scale rare disease case-control cohort
Trios from GEL, UKB & AllOfUs
Highlight RNU non coding variants & splice site
#ESHG2025