FAIR Catalogues

Make data and samples from biobanks, registries and research collections findable to ensure maximum (re)use for research and improve patients and citizens lives. Examples:

• European directory of biobank collections (BBMRI-ERIC)
• Dutch catalogue of human data and sample collections (BBMRI-NL)
• EU child network for multi-center cohort harmonisation
• Catalogue of rare disease samples (RD-Connect)
• Dutch catalogue of pathology samples (PALGA)
• LifeLines request portal of data and materials

Registries

Share patient, mutation and disease knowledge to understand relations between genetics, environment and disease. Examples:

• Deb-central: patient registry for Epidermolosis Bullosa
• International registry of Microvillus Inclusion Disease (MVID) patients and associated MYO5B, STX3 and STXBP2 mutations
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Genetic Variants Database
• Open-access database on CHD7 mutations

Research portals

Capture, manage, analyse and share complete datasets with biomedical researchers,clinical professionals, and bioinformaticians without the need for advanced bioinformatics skills. Examples:

• Prospectively study of 1000 IBD patients from the Northern provinces of the Netherlands
• Human Functional Genomics Project
• WormQTL - Public archive and analysis web portal for natural variation data in Caenorhabditis spp.

Pipelines

MOLGENIS compute based reusable bioinformatics protocols to process molecular profiles that can now be produced at unbelievable rates demanding bespoke bioinformatics protocols and high performance computing to process. Examples:

• [NGS DNA pipeline
• NGS RNA pipeline
• NGS scRNA pipelin
• NGS Microbiome
• Genotype Array Pipeline