In mammals, gene expression is governed by both genetic sequences and epigenetic modifications, such as DNA methylation, that instruct the cells of the body when and how to express each individual ...

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 ...

A central goal of human genetics is to learn how genetic variants impact the cellular and molecular phenotypes that underpin human diseases. Genetically engineered mouse models (GEMMs) are commonly ...

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 ...

Researchers have put together the most complete view yet of the genetic variation in humans, presented in two studies in the journal Nature. In a social media landscape shaped by hashtags, algorithms, ...

Completed in 2003, the Human Genome Project gave us the first sequence of the human genome, albeit based on DNA from a small handful of people. Building upon its success, the 1000 Genomes Project was ...

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 team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S.

Discover how hidden complexities of the human genome are revealed by scientists from The Jackson Laboratory. Technological advancements are now allowing us to assemble continuous genomes with ...