gene variants

Loss of the X chromosome increases with age and may have implications for health and disease risk.

In the largest study of its kind, scientists find nearly 4,000 genetic variants that may predispose people to alcohol and tobacco use behaviors. 

A new study points to repercussions of the Medieval pandemic for the health of modern humans.

Explore the genetics revolution in medicine.

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Research finds that a dog’s behavior has little to do with its genes.

A new study links a variant of the apolipoprotein E gene called APOE ε4 to better memory in older age, even in the presence of amyloid plaques—a possible explanation for the variant’s persistence despite its association with an increased risk of Alzheimer’s disease.

A mutant protein called Siglec-XII may promote carcinoma progression in humans, but inactivation of its gene seems to avoid the problem, according to a study.

The physiological demands of that long neck get support from a gene involved in strengthening bones and blood vessels, researchers find after inserting the sequence in mice.

Gamze Gursoy and Mark Gerstein of Yale Medical School have developed a strategy for stripping identifying variants from functional genomic data, balancing privacy with utility.

“Short sleeper” mice engineered to have the same sequence in the gene sleep less but show the same performance on memory tests as animals that sleep a normal amount.

He developed an MRI-based map of the human cortex, discovered genetic risk factors for neurodegenerative diseases, and wrote about his struggles with ALS.

Researchers parse genes linked with intellectual disability and autism from those tied to autism alone.

The agency says it has taken various steps to ensure the privacy of participants’ data. 

A whole-genome analysis of people who experience color when they listen to sounds points to a handful of genes involved in neural development.

Researchers identify 72 novel genetic variants associated with breast cancer risk.

A new algorithm reveals hoards of preparation-induced DNA mutations in publicly available human sequences.

A study identifies genetic variants that are linked to multiple phenotypes.

In a study of nearly 300,000 people, researchers identify 74 gene variants that are linked with how long subjects stayed in school.