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Article

Novel phenotype-disease matching tool for rare genetic diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Chen Jing, Xu Huan, Jegga Anil, Zhang Kejian, White Pete S, Zhang Ge

Abstract excerpt

PURPOSE: To improve the accuracy of matching rare genetic diseases based on patient's phenotypes. METHODS: We introduce new methods to prioritize diagnosis of genetic diseases based on integrated semantic similarity (method 1) and ontological overlap (method 2) between the phenotypes expressed by a patient and phenotypes annotated to known diseases. RESULTS: We evaluated the performance of our methods by two sets...

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PMID: 29895857
DOI: 10.1038/s41436-018-0050-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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