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 ...

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 ...

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 ...

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 study suggests that the long-standing Mendelian view of genetics has some blind spots.

For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...

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