Article

Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm

2021-10-07

Abstract excerpt

Over 7,000 rare genetic diseases have been identified, and millions of newborns are affected by severe rare genetic diseases each year. A variety of Human Phenotype Ontology (HPO)-based clinical decision support systems (CDSS) and patient repositories have been developed to support clinicians in diagnosing patients with suspected rare genetic diseases. In September 2017, we released PubCaseFinder (https://pubcasef...

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Literature Corpus work: f1bf76df-1e2a-5646-8cfe-58c45a08543e
DOI: 10.22541/au.163357617.71619246/v1

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