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A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology

Abstract Background Although rapid developed sequencing technologies make it possible for genotype data to be used in clinical diagnosis, it is still challenging for clinicians to understand the results of sequencing and make correct judgement based on them. Before this, diagnosis based on clinical...

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Hlavní autoři: Xiaofeng Gong, Jianping Jiang, Zhongqu Duan, Hui Lu
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2018-05-01
Edice:BMC Bioinformatics
Témata:
Human phenotype ontology (HPO)
Semantic similarity
Disease
Diagnosis
On-line přístup:http://link.springer.com/article/10.1186/s12859-018-2064-y
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