July 23, 2015
An article published in Nature Genetics illustrates the European Genome-phenome Archive (EGA) which was launched by the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) as a“permanent archive where genetic and phenotypic data can be stored by researchers for specific approved uses and is not fully open for public distribution.” At present, the EGA stores processed and raw data from many types of experiments which include single nucleotide polymorphism (SNP) and copy number variation (CNV) genotypes, whole genome sequence and phenotype data. This information is collected and distributed in accordance with the consent and confidentiality determined with the research participants, which is then published in conformity with the strict protocols governed by the EGA project.
According to the authors, the stored data is provided only to bona fide researchers and used for specific research aims as it can be useful for replication, meta-analysis and many other secondary uses, such as methods development or use as control samples. The article also summarises the similarities and differences of EGA with the database of Genotypes and Phenotypes (dbGaP) provided by NCBI.
According to the authors, the collaboration with the Centre for Genome Regulation (CRG) will help support major new EGA data sets. The article also explores several other value-added services provided by the EGA.