Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
Aaron J. MasinoElizabeth T. DecheneMatthew C. DulikAlisha WilkensNancy B. SpinnerIan D. KrantzJeffrey W. PenningtonPeter N. RobinsonPeter S. WhitePublished in: BMC Bioinform. (2014)
Keyphrases
- semantic similarity
- gene expression
- biologically meaningful
- gene ontology
- semantic relationships
- genotype phenotype
- single nucleotide polymorphisms
- semantic information
- genome wide
- microarray
- co occurrence
- wordnet
- vector space model
- semantic similarity computation
- gene expression data
- similarity measure
- semantic relatedness
- lexical database
- human subjects
- semantic features
- semantically similar
- semantic similarity measure
- visual similarity
- domain ontology
- domain specific
- biological networks
- database
- information retrieval
- cosine similarity
- domain knowledge
- knowledge representation
- high throughput
- human genome
- keywords
- expert systems
- knowledge base
- text mining