Article

PhenomeCentral: 7 years of rare disease matchmaking

2021-10-10

Abstract excerpt

A major challenge in validating genetic causes for patients with rare diseases (RDs) is the difficulty in identifying other RD patients with overlapping phenotypes and variants in the same candidate gene. This process, known as matchmaking, requires robust data sharing solutions in order to be effective. In 2014 we launched PhenomeCentral, a RD data repository capable of collecting computer-readable genotypic and...

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Literature Corpus work: 50c61236-8c90-549b-a52e-91a699b8b7f3
DOI: 10.22541/au.163389956.69631312/v1

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