4.5 Article

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

期刊

HUMAN MUTATION
卷 43, 期 6, 页码 734-742

出版社

WILEY-HINDAWI
DOI: 10.1002/humu.24341

关键词

API; HPO; matching algorithm; Matchmaker Exchange; PubCaseFinder

资金

  1. Research Organization of Information and Systems
  2. National Bioscience Database Center

向作者/读者索取更多资源

This paper describes notable updates regarding PubCaseFinder, the GeneYenta matching algorithm, and the PubCaseFinder API. The updated PubCaseFinder and new API empower patient repositories and medical professionals to actively use HPO-based resources.
Over 10,000 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 (), a web-based CDSS that provides ranked lists of genetic and rare diseases using HPO-based phenotypic similarities, where top-listed diseases represent the most likely differential diagnosis. We also developed a Matchmaker Exchange (MME) application programming interface (API) to query PubCaseFinder, which has been adopted by several patient repositories. In this paper, we describe notable updates regarding PubCaseFinder, the GeneYenta matching algorithm implemented in PubCaseFinder, and the PubCaseFinder API. The updated GeneYenta matching algorithm improves the performance of the CDSS automated differential diagnosis function. Moreover, the updated PubCaseFinder and new API empower patient repositories participating in MME and medical professionals to actively use HPO-based resources.

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