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 new review highlights how human evolution has shaped the presence of pathogenic variations in DNA damage repair (DDR) genes, offering a new perspective on why modern populations face increased ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

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

Diabetes mellitus is a heterogeneous group of metabolic diseases characterized by high blood glucose levels which, if untreated, lead to blindness, kidney and heart disease, stroke, loss of limbs and ...

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

Depression is a highly common mental health condition that affects millions of people worldwide. Medical professionals have ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...