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Rare disease dictionary

While bioinformatics lies at the leading edge of biological research, it is still underpinned by one of the oldest tools available to humanity: communication. Recognizing this, researchers are trying to standardize terminology through the creation of a rare genetic disease dictionary.

The project stemmed from rising awareness that while lots of researchers are working to identify rare diseases and their related genes, their findings are siloed in multiple, unconnected databases.

FierceBiotech