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

Human mutation - 1 Jun 2022

Fujiwara Toyofumi, Shin Jae-Moon, Yamaguchi Atsuko

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35143083
DOI: 10.1002/humu.24341
PMCID: PMC9305291

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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