Summary To register visit platform.rd-connect.eu RD-Connect: an integrated infrastructure for data sharing and analysis in rare disease research S. Beltran1,2, D. Piscia1,2, S. Laurie1,2, J. Protasio1,2, A. Papakonstantinou1,2, A. Cañada3,14, J.M. Fernández3,14, M. Thompson6, R. Kaliyaperumal6, S. Lair7, P. Sernadela8, M. Girdea9, M. Brudno9, A. Blavier7, R. Thompson10, H. Lochmüller10, D. Badowska10, V. Straub10, M. Bellgard11, J. Paschall12, M. Roos6, P.A.C. 't Hoen6, A. Valencia3,14, L. Monaco15, CM. Wang15, D. Salgado4,5, C. Béroud4,5,13, I. Gut1,2 and the RD-Connect Consortium 1Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain, 2Universitat Pompeu Fabra (UPF), Barcelona, Spain, 3Centro Nacional de Investigaciones Oncológicas (CNIO) , Madrid, Spain, 4Aix-Marseille Université, Marseille, France, 5Inserm, UMR_S 910, Marseille, France, 6Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands, 7Interactive Biosoftware, Rouen, France, 8DETI/IEETA, University of Aveiro, Portugal, 9Centre for Computational Medicine, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada, 10John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, UK, 11Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, 12European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Cambridge, United Kingdom, 13APHM, Hôpital TIMONE Enfants , Laboratoire de Génétique Moléculaire, Marseille, France, 14Instituto Nacional de Bioinformática (INB), Spain, 15Fondazione Telethon, Milan, Italy Around 300 million people worldwide are affected by one of the 6000+ known rare diseases (RD). RD research faces specific challenges because patients, clinical expertise and research communities are scarce and fragmented. Data sharing between researchers is therefore crucial. Next-generation sequencing (NGS) and genomics have opened up new possibilities for gene discovery and diagnosis, but many RD expert centres lack the bioinformatics expertise and computational support to take full advantage of the new genomic paradigm. RD-Connect is an EU-funded infrastructure bringing together multiple data types used in rare disease research into a common resource for researchers and clinicians. RD-Connect consists of three systems: Genome-Phenome Analysis Platform (platform.rd-connect.eu), Sample Catalogue (samples.rd-connect.eu) and Registry & Biobank Finder (catalogue.rd-connect.eu), which are open to any RD and available free of charge. Genome-Phenome Analysis Platform provides both a repository for RD research data and a user-friendly interface for NGS analysis that has much of the same functionality as commercial analysis suites. RD researchers or clinical centres worldwide can submit data, analyse own patients and compare with data submitted by others, and find patients in external databases with matching phenotype and candidate variant in the same gene. Registry & Biobank Finder is a global directory of rare disease patient registries and biobanks, including the numbers of register cases for each disease. Sample Catalogue allows browsing biosample collections of RD biobanks and find detailed information about individual biosamples. RD-Connect ethical and legal experts provide guidance to researchers and work on optimal models for data sharing, while engagement of patient representatives at every level of the project work ensures patient-centred approach. rd-connect.eu Sample selection Inheritance filters Quality filters Population filters Annotation filters Effect prediction filters Candidate gene filters Explore Results EGA Sequencing Lab Raw data (.bam/.fastq) Clinician / researcher PhenoTips (HPO terms) Sample Clinical phenotype Genome-Phenome Analysis Platform Sta