RD-Connect Sample Catalogue

RD-Connect Sample Catalogue catalogs samples and associated omics and phenotypic data to support discovery and management of rare disease biobank resources.

Key Features:

• Model-driven development: Uses the MOLGENIS toolkit's model-driven approach in which a generator suite translates model XML into complete application code, replacing approximately 15,000 lines of hand-written code with about 500 lines of model XML.
• Plug-in customization: Provides a plug-in mechanism to customize both the generator suite and the generated applications to specific research requirements.
• Optimized data backend and APIs: Generates an optimized database backend and exposes programming interfaces for programmatic access and management of data.
• Omics data capture and exchange: Supports capture, exchange, and utilization of diverse omics datasets and associated metadata.
• Support for genomic and molecular data types: Accommodates data and operations relevant to next-generation sequencing, genome-wide association studies (GWAS), quantitative trait loci (QTL) mapping, and proteomics.

Scientific Applications:

• Rare disease biobanking: Indexes and manages samples and metadata to enable sample discovery and structured data aggregation in rare disease biobanks.
• Genomic analyses: Supports workflows and data management for next-generation sequencing, GWAS, and QTL mapping studies.
• Proteomics and molecular experiments: Facilitates integration and handling of proteomics and other molecular experimental datasets.
• Systems biology integration: Enables combination of genomic, molecular, and phenotypic datasets for systems biology investigations.

Methodology:

Applications are generated by the MOLGENIS generator suite from model XML using a model-driven approach, employ a plug-in mechanism for customization, and provide an optimized database backend with programming interfaces for data access and management.