A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using everyday language. The study, conducted by researchers at Baylor College of Medicine and Texas Children's Hospital, appeared in the American Journal of Human Genetics.
"Rare genetic diseases are often caused by small changes in a person's DNA. However, not all genetic changes linked to a condition may play a role in the disease," said co-corresponding author Dr. Hyun-Hwan Jeong , assistant professor of pediatrics – neurology at Baylor and investigator at the Duncan Neurological Research Institute at Texas Children's. "Some changes may contribute to disease, while others may not. Identifying whether a particular genetic change or variant is harmful or an innocent bystander is crucial for diagnosing these conditions, but the process requires sifting through large amounts of data, a complex and time-consuming task."
