A massive genomics effort has identified thousands of single nucleotide non-coding variants, which alter gene activity, that link to disease and health.

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Researchers at the Icahn School of Medicine at Mount Sinai, and collaborators at the University of Bristol, KU Leuven, and the NIHR BioResource, have identified a neurodevelopmental disorder, caused ...

Why cells grow to just the right size has long baffled scientists. Too small or too large, and cells can trigger serious diseases, but the genetic switch behind this balance has remained elusive. Now, ...

Men tend to lose the Y chromosome from their cells as they age. But because the Y bears few genes other than for male determination, it was thought this loss would not affect health. But evidence has ...