mcquillin9.bsky.social
@mcquillin9.bsky.social
Reposted
Kartik Chundru (Exeter) @Chundru.bsky.social

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
May 26, 2025 at 9:37 AM