Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Aaron M. CohenJolie KanerRyan MillerJeffrey W. KopeskyWilliam R. HershPublished in: J. Am. Medical Informatics Assoc. (2024)
Keyphrases
- amino acids
- knowledge engineering
- chronic disease
- expert systems
- protein sequences
- knowledge acquisition
- knowledge elicitation
- domain knowledge
- medical practitioners
- knowledge representation
- expert knowledge
- health care
- electronic health records
- case based reasoning
- knowledge based systems
- artificial intelligence
- cardiovascular disease
- knowledge management
- software engineering
- protein structure prediction
- protein structure
- medical data
- secondary structure
- clinical trials
- protein function
- amino acid sequences
- natural language processing and machine learning
- machine learning
- clinical data
- social networks
- decision support system
- knowledge base
- protein families
- decision making
- physico chemical
- genetic algorithm