Chapter 4. An Introduction to the Discovery and Analysis of Genotype-Phenotype Associations

  1. Dr Francisco Azuaje Senior Member Associate Editor

Published Online: 14 JAN 2010

DOI: 10.1002/9780470686423.ch4

Bioinformatics and Biomarker Discovery: “Omic” Data Analysis for Personalized Medicine

Bioinformatics and Biomarker Discovery: “Omic” Data Analysis for Personalized Medicine

How to Cite

Azuaje, F. (2010) An Introduction to the Discovery and Analysis of Genotype-Phenotype Associations, in Bioinformatics and Biomarker Discovery: “Omic” Data Analysis for Personalized Medicine, John Wiley & Sons, Ltd, Chichester, UK. doi: 10.1002/9780470686423.ch4

Author Information

  1. Public Research Centre for Health (CRP-Santé), Luxembourg

Publication History

  1. Published Online: 14 JAN 2010
  2. Published Print: 19 FEB 2010

ISBN Information

Print ISBN: 9780470744604

Online ISBN: 9780470686423

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Keywords:

  • translational bioinformatics;
  • biomarkers;
  • SNPs;
  • CNVs;
  • genome-wide association studies;
  • genotype-phenotype associations;
  • personalized medicine

Summary

This chapter provides an introduction to the analysis of DNA variation and its relationship to disease and other phenotypes. It begins with a review of fundamental sources of genomic variation for biomarker discovery, as well as biological and statistical concepts to implement and interpret genotype-phenotype association studies. The latter includes explanations of the Hardy-Weinberg equilibrium, linkage disequilibrium and haplotypes. This chapter illustrates the process of multi-stage, case-control analysis for genome-wide association discovery. Examples of techniques and applications in the analysis of single nucleotide polymorphisms and copy number variation are presented. The chapter concludes with a discussion of key technical problems and challenges in this area