Extreme values for cholesterol, glucose, and height are driven by rare, high-impact genetic variants rather than polygenic ...

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 ...

An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic ...

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 ...

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 ...

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 ...

A major genetic study has uncovered a surprisingly common recessive cause of neurodevelopmental disorder, revealing how hidden changes in a small RNA gene can disrupt brain development and open new ...