NHGRI

Combining genetic testing with information from electronic health records revealed undiagnosed heart rhythm disorders and new conditions associated with inherited cancer gene mutations. Read More

Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions. Read More

Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis. Read More

Vanderbilt biochemists got unexpected results when they used their new approach to explore the role of DNA methylation in gene regulation. Read More

An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms. Read More

Simulated electronic health records could avoid patient privacy risks and help speed discovery. Read More

The first study that directly compares Neanderthal DNA in the genomes of a significant population of adults of European ancestry with their clinical records confirms that this archaic genetic legacy has a subtle but significant impact on modern human biology. Read More

To most effectively use electronic health records for research, investigators should query multiple components of the record to identify patients with specific diseases. Read More

A person’s mitochondrial gene “signature” could predict risk for diabetic retinopathy and guide early intervention strategies. Read More

A study of mitochondrial DNA mutations suggests they result from a process that selects for particular mutations in certain tissues. Read More