Genetics

Clinical evidence, research, and medical intelligence in Genetics.

Down syndrome research conference spotlights global trisomy 21 collaboration

Proceedings from the 4th T21RS meeting in Long Beach detail global trisomy 21 research, patient involvement, and cross-disciplinary collaboration.

Protein analysis from 400,000-year-old Homo erectus teeth suggests interbreeding with Denisovans and a hidden legacy in living Asians…

A Drosophila preprint links mating interactions to unusual reproductive gene diversity and divergence, with Sex Peptide and fruitless…

A 541-mouse study mapped 1,933 mQTL and identified chromosome 8 carboxyl esterase clusters as major regulators of circulating…

Functional analysis of TTN upstream open reading frames points to context-dependent translational control with potential relevance for muscle…

ClinGen experts adapted ACMG/AMP variant rules for the noncoding gene RMRP, addressing interpretation challenges in cartilage-hair hypoplasia and…

Qatar Biobank data reveal millions of QTLs, novel causal loci, and recessive regulatory effects shaped by consanguinity and…

Patient-derived iPSC blood vessel models implicate HNRNPC stabilization in VHL-associated vasculogenesis, pointing to an HIF2A-independent target.

All of Us multi-omics data identified 182,246 QTLs and rare variant signals that sharpen gene-disease links across diverse…

Tiled base editing found rare second-site NPC1 mutations that restore protein stability, trafficking, and cholesterol clearance in Niemann-Pick…

Genetics

Clinical evidence, research, and medical intelligence in Genetics.

In Brief The 5-minute rounds