Consolideren van VariantDB als collaborative variant interpretation platform binnen ELIXIR.
Given the rapid implementation of next-generation sequencing in various domains, we believe that one of the major bottlenecks will become the interpretation of the resulting data. We are convinced that a structural solution should support distributed big data storage, coupled to centralized and intelligent querying. Today, due to dispersed data, investigators resort to multiple databases and ad- hoc communication with collaborators to assess variant pathogenicity.
Considering today's challenges, we aim at providing an integrated platform offering researchers intelligent decision support and seamless collaboration options. First, phenotypic information is coupled to interpretation and ranking of individual variants in the context of a single sample. Second, we integrate the ELIXIR service NGS-Logistics, to enable platform wide analysis of variant prevalence. Third, we provide automatic selection of similar patients and matched control cohorts from the available samples, to perform valid enrichment analysis.
Within ELIXIR, NGS-Logistics already adheres to the philosophy of distributed storage and centralized analysis, on the level of variant calling. By implementing the features proposed above, VariantDB could complement this service at the level of variant interpretation. As a service, it will be an asset in both routine and research applications. Finally, the proposed platform is made available to all institutions, bringing new collaboration opportunities to ELIXIR partners.