NBIS – equipment for EGA-SE, the Swedish node in the federated EGA database

NBIS (National Bioinformatics Infrastructure Sweden) provides excellence in bioinformatics support to researchers in Sweden, enabling world-class life science by offering support, infrastructure and advanced training.

NBIS constitutes the SciLifeLab Bioinformatics platform and forms the Swedish node in ELIXIR (the European infrastructure for biological information).

The organisational structure allows for changes in support needs over time as new techniques are developed and utilised.Current application focus on development of the Swedish node in the federated EGA (European Genome-phenome Archive) to enable storage and controlled sharing of sensitive human genetic and phenotypic data in a secure, long-term sustainable, protected environment with strict access control in concordance with legal data protection requirements, ethical permits for research projects and contractual confidentiality obligations.The federated EGA is an ecosystem of interoperable services enabling population scale genomic and biomolecular data to be accessible across international borders accelerating research and improving healthcare.

The Swedish developments are coordinated within ELIXIR to minimise costs and maximise interoperability and efficiency, focusing on integration with Swedish HPC /cloud infrastructure, simplified data deposition, and connection to data sets at trusted Nordic (and other European) infrastructures, enabling the European 1+ million genomes vision.The Swedish EGA node will facilitate data publication and open science (FAIR with controlled access), enabling data sharing of benefit for scientists, healthcare providers and industry.

It will give access to European data, accelerating life sciences and enabling new directions of research, and it will enable healthcare to get access to genetic data, of special importance when treating patients with rare diseases.