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

Author:

Zolotareva Olga1,Kleine Maren2

Affiliation:

1. Bielefeld University, Faculty of Technology and Center for Biotechnology, International Research Training Group “Computational Methods for the Analysis of the Diversity and Dynamics of Genomes” and Genome Informatics, Universitätsstraße 25, Bielefeld, Germany

2. Bielefeld University, Faculty of Technology, Bioinformatics/Medical Informatics Department, Universitätsstraße 25, Bielefeld, Germany

Abstract

AbstractModern 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.

Publisher

Walter de Gruyter GmbH

Subject

General Medicine

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