ELIXIR Infrastructure for Data and Services to strengthen Life-Sciences Research in Flanders.

Genomic medicine is driving the field of precision medicine, but its extensive use of genomic information is highly disruptive to current medical procedures, IT infrastructure and towards the role of clinical geneticists. We explored the feasibility to share large scale genomic data while preserving privacy, in combination with extensive clinical interpretation resources. Here, we present the resulting platform, WiNGS, enabling broad implementation of genomic medicine. WiNGS is aimed at breaking down the complexity of analyzing genome sequencing data. It uses a federated data model to optimize ICT requirements of Whole Genome Sequencing (WGS) interpretation. Both genotype and phenotype data of individuals are kept locally, at the geographically distributed genomic centers, to ensure data protection. To facilitate setup, locale data stores are provided as a containerized module including the noSQL database and all required communication routines. Centralized access through the WiNGS online interface is managed through access control lists, allowing cross-center collaboration and meta-analysis. Whereas sensitive data is kept at local data stores, sample-independent information is managed centrally. We provide variant annotation as a centralized service, together with the phenotype and disease knowledge base used to classify variants. This further reduces infrastructural requirements of individual centers, whilst synchronizing information across centers.

Keywords:GENOME SEQUENCING, BIOINFORMATICS

Disciplines:Bio-informatics, Analysis of next-generation sequence data, Bioinformatics of disease

Project type:Collaboration project