News
2/2/2017

CRG: Datasets archived at the EGA allowed scientists to identify new developmental disorders

CRG: Datasets archived at the EGA allowed scientists to identify new developmental disorders


News from CRG


The largest-ever genetic study of children with previously undiagnosed rare developmental disorders has discovered 14 new developmental disorders. The research, led by scientists at the Wellcome Trust Sanger Institute, has been published in Nature. The research also provided diagnoses of rare conditions for over a thousand children and their families.

This project is a new example on the importance of a secure data management and storage. In this case, all relevant data can be found at the European Genome-Phenome Archive (EGA), which is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from biomedical research projects. Access to these genomic data allows scientists to perform challenging research projects while taking advantage of genetic and phenotypic data from other studies. The EGA is not only contributing to make these genomic data available to the international scientific community but also protecting the privacy of human donors.

The European Genome-phenome Archive (EGA) is jointly managed and available at the European Bioinformatics Institute (EBI) and the Centre for Genomic Regulation (CRG). The EGA-CRG is partially supported by “la Caixa” Foundation.

More information:
CRG website