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A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases.

Olga I ZolotarevaMaren Kleine
Published in: Journal of integrative bioinformatics (2019)
Modern high-throughput experiments provide us with numerous potential associations between genes and diseases. Experimental validation of all the discovered associations, let alone all the possible interactions between them, is time-consuming and expensive. To facilitate the discovery of causative genes, various approaches for prioritization of genes according to their relevance for a given disease have been developed. In this article, we explain the gene prioritization problem and provide an overview of computational tools for gene prioritization. Among about a hundred of published gene prioritization tools, we select and briefly describe 14 most up-to-date and user-friendly. Also, we discuss the advantages and disadvantages of existing tools, challenges of their validation, and the directions for future research.
Keyphrases
  • genome wide identification
  • genome wide
  • high throughput
  • copy number
  • genome wide analysis
  • dna methylation
  • transcription factor
  • endothelial cells
  • bioinformatics analysis
  • risk assessment