An interconnected data infrastructure to support large-scale rare disease research.
Gigascience
; 132024 Jan 02.
Article
in En
| MEDLINE
| ID: mdl-39302238
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rare Diseases
Limits:
Humans
Language:
En
Journal:
Gigascience
Year:
2024
Document type:
Article
Affiliation country:
Netherlands
Country of publication:
United States