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 ...

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 ...

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 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 ...

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 ...

Throughout history, most of the world's genomic research has relied on DNA data from people of European ancestry.

Calcium pyrophosphate deposition disease (CPPD), or pseudogout, is one of the most common forms of inflammatory arthritis in individuals over 60 years of age and is characterized by the deposition of ...

PHILADELPHIA -- The first time the seemingly healthy woman gave birth, she went into heart failure. She recovered and went on to deliver her second child a few years later. Doctors cleared the woman ...

Move aside, Neanderthals, new suitors of modern humans have been discovered from the Altai Mountains of Siberia. These suitors are the Denisovans, whose interbreeding with modern humans apparently ...