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

Fluid build-up in the brain — hydrocephalus — increases pressure and risk for brain damage; Vanderbilt researchers have now identified genes and signaling pathways associated with the condition. Read More

Vanderbilt Genetics Institute investigators have added a new method to the computational genetics toolbox. Their approach, described in the journal Nature Genetics, integrates vast genomics datasets to predict gene expression and facilitate discovery of genetic mechanisms underlying human diseases. 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

Diagnostic codes used for billing purposes effectively identify smokers in a general clinic population and can be used to adjust smoking status in genetic and epidemiologic studies. Read More

A new study identifies interactions between genes and nutrients that may participate in determining levels of cholesterol and triglycerides. Read More

A new statistical tool developed by Vanderbilt biostatisticians will help medical researchers make sense of a commonly encountered – but hard-to-analyze – type of data. Read More

Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD). Read More

Should scientists inform participants in genomic studies about their risk for diseases or conditions discovered during the studies, and if so, when and how? A Vanderbilt professor is part of a team working to answer these questions. Read More

A regulatory loop in zebrafish may explain how the right and left sides of our brains take on different functions. Read More