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Open Access Highly Accessed Research article

Direct maximum parsimony phylogeny reconstruction from genotype data

Srinath Sridhar1, Fumei Lam2, Guy E Blelloch1, R Ravi3 and Russell Schwartz4*

Author Affiliations

1 Computer Science Department, Carnegie Mellon University, Pittsburgh, PA, USA

2 Computer Science Department, Brown University, Providence, RI, USA

3 Tepper School of Business, Carnegie Mellon University, Pittsburgh, PA, USA

4 Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, PA, USA

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BMC Bioinformatics 2007, 8:472  doi:10.1186/1471-2105-8-472

Published: 5 December 2007

Abstract

Background

Maximum parsimony phylogenetic tree reconstruction from genetic variation data is a fundamental problem in computational genetics with many practical applications in population genetics, whole genome analysis, and the search for genetic predictors of disease. Efficient methods are available for reconstruction of maximum parsimony trees from haplotype data, but such data are difficult to determine directly for autosomal DNA. Data more commonly is available in the form of genotypes, which consist of conflated combinations of pairs of haplotypes from homologous chromosomes. Currently, there are no general algorithms for the direct reconstruction of maximum parsimony phylogenies from genotype data. Hence phylogenetic applications for autosomal data must therefore rely on other methods for first computationally inferring haplotypes from genotypes.

Results

In this work, we develop the first practical method for computing maximum parsimony phylogenies directly from genotype data. We show that the standard practice of first inferring haplotypes from genotypes and then reconstructing a phylogeny on the haplotypes often substantially overestimates phylogeny size. As an immediate application, our method can be used to determine the minimum number of mutations required to explain a given set of observed genotypes.

Conclusion

Phylogeny reconstruction directly from unphased data is computationally feasible for moderate-sized problem instances and can lead to substantially more accurate tree size inferences than the standard practice of treating phasing and phylogeny construction as two separate analysis stages. The difference between the approaches is particularly important for downstream applications that require a lower-bound on the number of mutations that the genetic region has undergone.