mcquillin9.bsky.social
@mcquillin9.bsky.social
Reposted
𝗠𝗼𝗹𝗲𝗰𝘂𝗹𝗮𝗿 𝗘𝗽𝗶𝗱𝗲𝗺𝗶𝗼𝗹𝗼𝗴𝘆 𝗦𝗵𝗼𝗿𝘁 𝗖𝗼𝘂𝗿𝘀𝗲 (𝗨𝗖𝗟, 𝗠𝗮𝘆 𝟮𝟬𝟮𝟲)

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.
January 23, 2026 at 9:12 AM
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