GCAT | Genomes for life
The GCAT project is a prospective cohort study that was designed to recruit the general population of Catalonia, the north-east region of Spain. This study …
Federated discovery and sharing of genomic data using Beacons
The Beacon Project is a Global Alliance for Genomics & Health (GA4GH) initiative that enables genomic and clinical data sharing across federated networks. The project …
Data Use Ontology (DUO) at EGA
For those of you that follow the updates of GA4GH you will have seen the unanimous approval of the steering committee for DUO to be …
EuCANCan: EUropean-CANadian Cancer network
The EUropean-CANadian Cancer network (EuCANCan) is a project aiming to develop a federated network of aligned and interoperable infrastructures for the homogeneous analysis, management and …
GA4GH and ELIXIR Release V1.0.0 of Beacon API with increased security measures
At the beginning of last year, ELIXIR and the Global Alliance for Genomics and Health (GA4GH) announced an expanded partnership for the Beacon project. For …
European Genome-phenome Archive 10th Anniversary Symposium
The European Genome-phenome Archive (EGA), jointly hosted by the European Bioinformatics Institute (EMBL-EBI) and the Centre for Genomic Regulation (CRG), is celebrating its 10th anniversary …
Data integration: Electronic Health Record – Omics Data
A new workshop took place in CRAG (Centre for Research in Agricultural Genomics) this July. The event – Electronic Health Record, Omics Data – …
The impact of genomics data on health: The role of the European Genome-Phenome Archive (EGA)
The amount of produced genomic data is outstanding nowadays (petabytes of genomes sequenced every day). If these data are available within the scientific community the …
De novo mutations in regulatory elements in neurodevelopment disorders
One of the latest published articles in Nature inquires the unexplored role of de novo mutations in regulatory elements affecting genes associated with developmental disorders …
The landscape of genomic alterations across childhood cancers
This month Nature has published a new article that presents a comprehensive analysis of genetic alterations related to several cancer types. This study includes 961 …