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

J Integr Bioinform. 2019 Sep 9;16(4):20180069. doi: 10.1515/jib-2018-0069.

Abstract

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.

Keywords: Data integration; Gene prioritization; Human diseases.

Publication types

  • Review

MeSH terms

  • Computational Biology*
  • Gene Regulatory Networks*
  • Genetic Diseases, Inborn / genetics*
  • Genome-Wide Association Study
  • Humans