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A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology
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 features...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998886/ https://www.ncbi.nlm.nih.gov/pubmed/29745853 http://dx.doi.org/10.1186/s12859-018-2064-y |