The VARIANT-DB is connecting NCER-PD to the international community. As part of the international Parkinson's Disease Genome Sequencing Consortium (PDGSC), a platform to host and analyse a comprehensive repository of PD genetic variants is developed. The platform will integrate the results of current and ongoing genome-wide sequencing efforts in PD and will provide a single entry point for access, curation, (re)-analysis, and integration of genetic data in PD. The platform will be closely linked to curated databases of PD-related pathways, networks, and models, allowing functional annotation of identified variants.
The PDGSC brings together an international group of investigators from academia, non-pro fit organisations and industry. The aim of the consortium is to coordinate and accelerate PD genetics involving whole exome and whole genome datasets. Genetic data from ongoing large scale sequencing efforts in PD is currently available via large international consortia like GEO-PD or restricted data repositories, such as dbGAP or PDgene. The access to available data is limited to summary statistics and small resulting variant datasets coming from different analysis pipelines, making them difficult to compare and re-use.
The VARIANT-DB project will integrate ongoing international sequencing efforts by combining data derived from large cohorts from major stakeholders in the PD field. It will bring together the results of ongoing sequencing projects with publicly available genetic data and curated clinical data. The project will capitalise on the Luxembourgish expertise gained in large genome and exome sequencing projects and in the curation and integration of omics and clinical data. This unique resource will extend the capacity of the NCER-PD data repository by an advanced tool set to study PD genetics. It will allow to integrate data from cohorts involved in NCER-PD with major international efforts on PD genomics.