The paper describes the principles of creating a computer consultative decision support system for the diagnosis of hereditary diseases at the pre-laboratory stage. The prototype is implemented on the example of the clinical manifestations of lysosomal storage diseases. The system is based on literary data, which are accompanied by expert assessments. The developed intellectual system forms a limited differential diagnostic row of hypotheses. It provides assistance to the geneticist in differential diagnosis both in the presence of a preliminary diagnosis and in the absence of assumptions about the nosology of the disease.
DOI: 10.25557/2073-7998.2020.08.9-11
Download PDF or read online at the Medical Genetics journal (in Russian): https://www.medgen-journal.ru/jour/article/view/1660/1296
ResearchGate: https://www.researchgate.net/publication/347412579_System_for_computer_diagnosis_of_hereditary_diseases
Semantic Scholar: https://api.semanticscholar.org/CorpusID:230664898
Kobrinskii B. A., Blagosklonov N. A., Demikova N. S. System for computer diagnosis of hereditary diseases. Medical genetics. 2020; 19(8): 9-11 (In Rus)