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 ...

Two Princeton University studies are opening important new windows into understanding an untreatable group of common genetic disorders known as RASopathies that are characterized by distinct facial ...

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...

New research has revealed an incredible discovery: modern humans carry 20% of their genetic material from a mysterious population that split from our ancestors 1.5 million years ago. This study ...

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated ...

The Indigenous peoples of the Bolivian highlands are survivors. For thousands of years they have lived at altitudes of more than two miles, where oxygen is about 35 percent lower than at sea level.

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

Calcium pyrophosphate deposition disease (CPPD), or pseudogout, is one of the most common forms of inflammatory arthritis in individuals over 60 years of age and is characterized by the deposition of ...