Sharing of genetic data empowers discovery of new disorders in children

5 octubre 2015

Four new genetic disorders have been identified by the team behind the Deciphering Developmental Disorders (DDD) Study, one of the world’s largest nationwide rare disease genome-wide sequencing initiatives. They developed a novel computational approach to identify genetic variants that cause disease in young children, contrasting the DNA of children with severe developmental disorders of unknown genetic cause, with the DNA from individuals without overt developmental disorders. It was only possible because of data sharing.