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Minisymposium Presentation
The German Human Genome-Phenome Archive: Advancing Towards a Federated Infrastructure for Managing and Analyzing Genomics and Phenotypic Data
Presenter
Luiz Gadelha is a project coordinator at the German Human Genome-Phenome Archive (GHGA) in Heidelberg, Germany. He received his doctoral degree in Computer and Systems Engineering from the Federal University of Rio de Janeiro, Brazil with an internship at Argonne National Laboratory and the University of Chicago, in the United States. He has worked in institutions like the National Laboratory for Scientific Computing, in Brazil, and the Friedrich-Schiller-University Jena, in Germany. He has been involved in the research and development of parallel and distributed scientific workflow management systems and scientific databases. He has participated in research projects in the bioinformatics and biodiversity application areas. His main research interests are scientific data management and computational reproducibility.
Description
The German Human Genome-Phenome Archive (GHGA) is dedicated to addressing the challenges of managing human genomics and phenotypic data. As part of the German National Research Data Infrastructure (NFDI), it connects German researchers to the global genome research landscape, in collaboration with initiatives like the European Genome-Phenome Archive (EGA) and the European Genomic Data Infrastructure (GDI). It will enable the integration of data into and from national and international studies while safeguarding sensitive patient information. GHGA follows an approach that involves establishing secure IT infrastructure for omics data management, implementing an ethico-legal framework for data protection, harmonizing metadata schemas, and standardizing omics data processing workflows, while embracing Global Alliance for Genomics and Health (GA4GH) standards. Beyond establishing a data repository, GHGA actively engages in the development, standardization, and benchmarking of bioinformatics workflows, collaborating with the nf-core and NCbench communities. The recently launched GHGA Metadata Catalog facilitates the discovery of non-personal metadata, laying the foundation for the upcoming GHGA Archive. GHGA will enable cross-project analysis and promote new collaborations and research projects in the international context of genome research. This will also be of high importance for new national projects such as the upcoming genomDE project within Germany.