Scientists say they are closer to pinning down the genetic causes of inherited diseases ranging from muscular dystrophy to certain types of heart disease after analysing the DNA of more than 60,000 people. Researchers have discovered more than 3,000 genes in which certain mutations are likely to play a role in disease, as well as more than 160 genetic mutations that have previously been linked to inherited conditions – but are in fact harmless. The findings will help to pin down whether genetic mutations seen in a patient are likely to be behind their disease.
The research is the fruit of an international collaboration, dubbed Exac, which pulled together data from around the world to produce the largest ever catalogue of variations in protein-coding regions of DNA, boasting data from 60,706 individuals.