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Disease gene candidacy and ESTs

Part 2. Genomics

2.7. ESTs: Cancer Genes and the Anatomy Project

Short Specialist Review

  1. Mark I. McCarthy

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g207312

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

McCarthy, M. I. 2005. Disease gene candidacy and ESTs. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.7:84.

Author Information

  1. University of Oxford, Oxford, UK

Publication History

  1. Published Online: 15 APR 2005

Abstract

The effort to identify and characterize the genetic variants that underlie susceptibility to common multifactorial traits represents one of the main challenges in biomedical research today. Key to this research is the capacity to assess the biological candidacy of potential susceptibility genes by matching their characteristics to known features of the disease. Tissue expression patterns provide one of the most obvious and useful parameters in this respect. There is a growing body of available data on the expression state of human genes, including information inherent in the tissue origins of the expressed sequence tags (ESTs) that can be associated with a chosen transcript. This short review discusses the value of transcript sequence data in the mapping of human disease genes.

Keywords:

  • expressed sequence tags;
  • complex traits;
  • disease-susceptibility;
  • biological candidacy;
  • expression profiling