Transforming Data
to Rare Disease Knowledge
Uncover insights into rare diseases to facilitate discoveries for new therapeutics.
Learn MoreRARe-SOURCE®, an integrated bioinformatics resource for rare diseases, is designed to help researchers and clinicians uncover insights into rare diseases. Data from multiple sources are reviewed, annotated, integrated and presented to facilitate discoveries into rare disease therapeutics.
- Annotated data on rare diseases, associated genes, variants and proteins.
- Integrated literature references and insights into research publications.
- Tools for exploring and analyzing multimodal, cross-cutting datasets.
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RARe-SOURCE Overview and User Guide
Transforming Data to Rare Disease Knowledge
Download the RARe-SOURCE® overview to learn how the platform integrates rare disease, gene, variant, curation, protein, and literature data to support rare disease research.