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Pathway-based classification of genetic diseases.

Ivan Y IourovSvetlana G VorsanovaYuri B Yurov
Published in: Molecular cytogenetics (2019)
The basic idea of our classification is to propose pathways as parameters for designating a genetic disease. To proceed, we have followed the tradition of using ancient Greek words and prefixes to create the terms for the pathway-based classification of genetic diseases. We have chosen the word "griphos" (γρῖφος), which simultaneously means "net" and "puzzle", accurately symbolizing the term "pathway" currently used in molecular biology and medicine. Thus, diseases may be classified as monogryphic (single pathway is altered to result in a phenotype), digryphic (two pathways are altered to result in a phenotype), etc.; additionally, diseases may be designated as oligogryphic (several pathways are altered to result in a phenotype), polygryphic (numerous pathways or cascades of pathways are altered to result in a phenotype) and homeogryphic in cases of comorbid diseases resulted from shared pathway alterations. We suppose that classifying illness this way using both "gene-centric" and "pathway-centric" concepts is able to revolutionize current views on genetic diseases.
Keyphrases
  • genome wide
  • machine learning
  • deep learning
  • copy number
  • gene expression
  • dna methylation
  • transcription factor