Title
Modeling associations between genetic markers using Bayesian networks
Date Issued
04 September 2010
Access level
open access
Resource Type
journal article
Author(s)
Maciel C.
Universidad de São Paulo
Abstract
Motivation: Understanding the patterns of association between polymorphisms at different loci in a population (linkage disequilibrium, LD) is of fundamental importance in various genetic studies. Many coefficients were proposed for measuring the degree of LD, but they provide only a static view of the current LD structure. Generative models (GMs) were proposed to go beyond these measures, giving not only a description of the actual LD structure but also a tool to help understanding the process that generated such structure. GMs based in coalescent theory have been the most appealing because they link LD to evolutionary factors. Nevertheless, the inference and parameter estimation of such models is still computationally challenging. Results: We present a more practical method to build GM that describe LD. The method is based on learning weighted Bayesian network structures from haplotype data, extracting equivalence structure classes and using them to model LD. The results obtained in public data from the HapMap database showed that the method is a promising tool for modeling LD. The associations represented by the learned models are correlated with the traditional measure of LD D′. The method was able to represent LD blocks found by standard tools. The granularity of the association blocks and the readability of the models can be controlled in the method. The results suggest that the causality information gained by our method can be useful to tell about the conservability of the genetic markers and to guide the selection of subset of representative markers. © The Author(s) 2010. Published by Oxford University Press.
Volume
26
Issue
18
Language
English
OCDE Knowledge area
Genética humana
Genética, Herencia
Scopus EID
2-s2.0-77956545115
PubMed ID
Source
Bioinformatics
ISSN of the container
14602059
Sources of information:
Directorio de Producción Científica
Scopus