New tool for finding gene differences linked to disease

People have many differences, or “variants,” in their genes. Some variants may affect whether a person gets a certain disease. A PheWAS is a type of study done to look for these variants. We first find people with specific variants. We then see what diseases or conditions these people have. Vanderbilt scientists are creating ways to improve these kinds of studies. They have made a tool that pulls together related conditions from medical records. They will first test this method on variants known to cause disease. This will show if the tool works. Then, they will test the tool on variants that are not linked to any diseases. These genes do many important things in our cells. So, the researchers think variants in these genes may be linked to many different diseases. This study will help us find new gene variants involved in disease.