Science ❯ Biology ❯ Genetics

Genetic Variants

Disease Risk Rare Variants Rare Gene Differences BSN and APBA1 Gene Variants Protective Genetic Variants Fibronectin Gene Variant Disease Patterns SLC20A2 Gene Tumor Marker Genes Eczema Research Insulin Gene Variants Cancer Risk Missense Variants

3 ARTICLES

2mo ago

AI Model popEVE Delivers Proteome-Wide Severity Scores for Rare-Disease Diagnosis

By fusing evolutionary patterns with a protein language model plus UK Biobank and gnomAD variation, the tool produces calibrated cross-gene scores that curb ancestry bias.

7 ARTICLES

5mo ago

Mount Sinai Team Publishes AI ‘Penetrance’ Scores to Gauge Disease Risk From Rare Variants

3 ARTICLES

8mo ago

Dual Circadian Clocks and Gene Variants Govern Seasonal Shift Work Adaptation