Estimating genealogies from linked marker data: a Bayesian approach.

Dario Gasbarra, Matti Pirinen, Mikko J Sillanpää, Elja Arjas
Author Information
  1. Dario Gasbarra: Department of Mathematics and Statistics, University of Helsinki, Finland. dag@rni.helsinki.fi

Abstract

BACKGROUND: Answers to several fundamental questions in statistical genetics would ideally require knowledge of the ancestral pedigree and of the gene flow therein. A few examples of such questions are haplotype estimation, relatedness and relationship estimation, gene mapping by combining pedigree and linkage disequilibrium information, and estimation of population structure.
RESULTS: We present a probabilistic method for genealogy reconstruction. Starting with a group of genotyped individuals from some population isolate, we explore the state space of their possible ancestral histories under our Bayesian model by using Markov chain Monte Carlo (MCMC) sampling techniques. The main contribution of our work is the development of sampling algorithms in the resulting vast state space with highly dependent variables. The main drawback is the computational complexity that limits the time horizon within which explicit reconstructions can be carried out in practice.
CONCLUSION: The estimates for IBD (identity-by-descent) and haplotype distributions are tested in several settings using simulated data. The results appear to be promising for a further development of the method.

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MeSH Term

Algorithms
Alleles
Bayes Theorem
Chromosome Mapping
Data Interpretation, Statistical
Female
Founder Effect
Gene Frequency
Genetic Linkage
Genetic Markers
Genetics, Population
Haplotypes
Humans
Male
Markov Chains
Models, Genetic
Monte Carlo Method
Pedigree
Quantitative Trait Loci

Chemicals

Genetic Markers

Word Cloud

Created with Highcharts 10.0.0estimationseveralquestionsancestralpedigreegenehaplotypepopulationmethodstatespaceBayesianusingsamplingmaindevelopmentBACKGROUND:AnswersfundamentalstatisticalgeneticsideallyrequireknowledgeflowthereinexamplesrelatednessrelationshipmappingcombininglinkagedisequilibriuminformationstructureRESULTS:presentprobabilisticgenealogyreconstructionStartinggroupgenotypedindividualsisolateexplorepossiblehistoriesmodelMarkovchainMonteCarloMCMCtechniquescontributionworkalgorithmsresultingvasthighlydependentvariablesdrawbackcomputationalcomplexitylimitstimehorizonwithinexplicitreconstructionscancarriedpracticeCONCLUSION:estimatesIBDidentity-by-descentdistributionstestedsettingssimulateddataresultsappearpromisingEstimatinggenealogieslinkedmarkerdata:approach

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