Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

A new study details the discovery of rare gene variants that increase the prevalence of Type 2 diabetes in multiple generations of Asian Indian people. The unusual finding is a step toward more ...

In this groundbreaking study, researchers uncover how ultra-rare genetic variants, especially in heart cells, play a critical role in raising the risk of coronary artery disease among individuals of ...

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual carrying the presenilin 2 (PSEN2) p.Asn141Ile mutation, a genetic variant ...

ADHD is a neurodevelopmental disorder with a high heritability, in which the genetic component consists of thousands of genetic variants. Most variants only slightly increase the likelihood of ...

Dharambir Sanghera, Ph.D., is a professor of pediatric genetics at the University of Oklahoma College of Medicine. “We wanted to study several generations of Asian Indians because understanding ...