The Solve-RD project brings together clinicians, scientists, and patient representatives
from 51 institutes spanning 15 countries to collaborate on genetically diagnosing
("solving") rare diseases (RDs). The project aims to significantly increase the diagnostic
success rate by co-analyzing data from thousands of RD cases, including phenotypes,
pedigrees, exome/genome sequencing, and multiomics data. Here we report on the data
infrastructure devised and created to support this co-analysis. This infrastructure
enables users to store, find, connect, and analyze data and metadata in a collaborative
manner. Pseudonymized phenotypic and raw experimental data are submitted to the RD-Connect
Genome-Phenome Analysis Platform and processed through standardized pipelines. Resulting
files and novel produced omics data are sent to the European Genome-Phenome Archive,
which adds unique file identifiers and provides long-term storage and controlled access
services. MOLGENIS "RD3" and Café Variome "Discovery Nexus" connect data and metadata
and offer discovery services, and secure cloud-based "Sandboxes" support multiparty
data analysis. This successfully deployed and useful infrastructure design provides
a blueprint for other projects that need to analyze large amounts of heterogeneous
data.