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 ...

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 ...

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 ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

A study by researchers at The Jackson Laboratory (JAX), the Broad Institute, and Yale University has identified how specific genetic changes function in cells to influence disease risk and other human ...

A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following research by scientists and doctors in Manchester. Ava Begley's parents say ...

Of the many advances in science and technology over the past 25 years, genetic testing is arguably one of the most notable. Once a rare part of health care, it is now becoming much more common. It’s ...

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 vast dataset allowed the Johns Hopkins University-led team to demonstrate robust connections between specific variations in a mother's DNA and their risk of miscarriage. The findings shed new ...