Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Case Western Reserve University is part of a landmark study that has discovered four novel gene variations associated with blood pressure. The 19-site meta-analysis, involving nearly 30,000 ...

A genetics‑guided drug, compound 6, targets CARD9 to subtly calm gut inflammation in Crohn’s disease, pointing to safer, ...

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 ...

Subscribe to our newsletter for the latest sci-tech news updates. The vast dataset allowed the Johns Hopkins University-led team to demonstrate robust connections between specific variations in a ...

For many scientists, the first glimpse of a DNA sequence—those colored peaks marking A, T, C, and G—sparked a lifelong fascination with the code that shapes us all. That same spirit of discovery ...

Testing the biological sex of an athlete is becoming more common in sport, with governing bodies defending the practice as ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

The headline figure of lifespan being around “50% heritable” risks being misunderstood as meaning genes determine half of a ...