Investigations on factors influencing HPO-based semantic similarity calculation

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Investigations on factors influencing HPO-based semantic similarity calculation

BACKGROUND Although disease diagnosis has greatly benefited from next generation sequencing technologies, it is still difficult to make the right diagnosis purely based on sequencing technologies for many diseases with complex phenotypes and high genetic heterogeneity. Recently, calculating Human Phenotype Ontology (HPO)-based phenotype semantic similarity has contributed a lot for completing d...

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ژورنال

عنوان ژورنال: Journal of Biomedical Semantics

سال: 2017

ISSN: 2041-1480

DOI: 10.1186/s13326-017-0144-y