Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Xiaoyi ChenNicolas GarcelonAntoine NeurazKaty BillotMarc LelargeThomas BonaldHugo GarciaYoann MartinVincent BenoitMarc VincentHassan FaourMaxime DouilletStanislas LyonnetSophie SaunierAnita BurgunPublished in: J. Biomed. Informatics (2019)
Keyphrases
- diagnostic process
- similarity measure
- distance measure
- model based diagnosis
- similarity measurement
- co occurrence
- similarity metrics
- diagnostic tool
- user defined
- semantic similarity
- edit distance
- copy number
- disease diagnosis
- similarity metric
- genetic algorithm
- decision support
- clustering algorithm
- information systems