Title
Rare disease knowledge enrichment through a data-driven approach.
Abstract
Per our evaluation results, our approach was able to enrich existing rare disease knowledge resources with phenotype-disease associations from EMR and thus support rare disease differential diagnosis.
Year
DOI
Venue
2019
10.1186/s12911-019-0752-9
BMC medical informatics and decision making
Keywords
Field
DocType
Data-driven approach,Differential diagnosis,Knowledge enrichment,Rare disease
Data mining,Rare disease,Data-driven,Information retrieval,Association rule learning,Encyclopedia,Knowledge base,Health informatics,Medicine,Human Phenotype Ontology,Differential diagnosis
Journal
Volume
Issue
ISSN
19
1
1472-6947
Citations 
PageRank 
References 
2
0.45
17
Authors
7
Name
Order
Citations
PageRank
Feichen Shen112322.60
Yiqing Zhao240.82
Liwei Wang36310.92
Majid Rastegar-Mojarad49617.23
Yanshan Wang54719.00
Sijia Liu6608.06
Hongfang Liu71479160.66