Molecular genetic data are now widely used in clinical, epidemiological, and population health research. Using them well and interpreting results appropriately requires careful attention to study design, data quality, and population structure.
Molecular genetic data are now widely used in clinical, epidemiological, and population health research. Using them well and interpreting results appropriately requires careful attention to study design, data quality, and population structure.
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