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 ...

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 study led by researchers at King's College London and QIMR Berghofer Medical Research Institute has analyzed genetic data ...

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 newly identified recessive neurodevelopmental disorder (NDD) linked to variants in the RNU2-2 gene may be among the most common genetic causes of intellectual disability and epilepsy, new research ...

In the coming weeks, the Human Genome and Stem Cell Research Center (HUG-CELL) will begin recruiting participants for the ...