O'Reilly logo

Bioinformatics and Biomarker Discovery: "Omic" Data Analysis for Personalized Medicine by Francisco Azuaje

Stay ahead with the world's most comprehensive technology and business learning platform.

With Safari, you learn the way you learn best. Get unlimited access to videos, live online training, learning paths, books, tutorials, and more.

Start Free Trial

No credit card required

4

An introduction to the discovery and analysis of genotype-phenotype associations

This chapter presents an introduction to genomic data and approaches to biomarker discovery: DNA variation markers and genome-wide association analysis. It will introduce fundamental concepts, such as linkage disequilibrium, the Hardy-Weinberg equilibrium and genetic interactions. The characteristics of the data and technical requirements will be discussed. This will include discussions on recent advances in cardiovascular and cancer research, concentrating on: (a) biomedical findings and clinical applications, (b) statistical and data mining methodologies applied, and (c) strengths and limitations. Chapter 9 will offer additional information on databases and software relevant to genome-wide association studies.

4.1 Introduction: sources of genomic variation

Alleles and genotypes represented in statistically detectable high rates in a population sample may be seen as factors that confer greater susceptibility to a particular disease or clinical response. Moreover, these loci may be strongly associated with other (phenotypically-neutral) loci, that is in linkage disequilibrium, which may also be over-represented in the population sample. Thus, one of the main objectives of genotype-phenotype association studies is to identify statistically detectable differences between phenotype-specific groups of individuals (e.g. between cases and controls) on the basis of their genotypes (Li, 2008). In recent ...

With Safari, you learn the way you learn best. Get unlimited access to videos, live online training, learning paths, books, interactive tutorials, and more.

Start Free Trial

No credit card required