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Matthew Stephens, Ph.D.

Matthew Stephens
Professor,
Department of Human Genetics and
Department of Statistics

The University of Chicago
Department of Statistics
Eckhart Hall Room 126
5734 S. University Avenue
Chicago, IL 60637

Phone: (773)702-8327


My general interests include Bayesian and computational statistics, particularly when applied to problems in population genetics. Specific interests include:

  • estimating haplotypes from population genotype data (for which I distribute a software package PHASE).
  • developing statistical models for patterns of linkage disequilibrium across multiple loci, and using these patterns to identify recombination hotspots.
  • spatial modelling of allele frequency variation.

Selected Publications

Stephens, M., Sloan, J., Robertson, P.D., Scheet, P., and Nickerson, D.A. (2006). Automating Sequence-Based Detection and Genotyping of Single Nucleotide Polymorphisms (SNPs) from Diploid Samples. Nature Genetics, 38(3): 375-81.

Scheet, P., and Stephens, M. (2006). A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. American Journal of Human Genetics, 78(4): 629-44.

Hellenthal, G., Pritchard J., and Stephens, M. (2006). The effects of genotype-dependent recombination, and transmission asymmetry, on linkage disequilibrium. Genetics, 172(3): 2001-5.

Crawford, D.C., Bhangale, T., Li, N., Rieder, M.J., Nickerson, D.A., and Stephens, M. (2004). Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genetics, 36:700-706.

Wasser, S.K., Shedlock, A.M., Comstock, K., Ostrander, E.A., Mutayoba, B., and Stephens, M. (2004). Assigning Isolated African Elephant DNA to a Geographic Region of Origin: Applications to Monitoring the Ivory Trade. PNAS, 101: 14847–14852.

Li, N., and Stephens,M. (2003). Modelling Linkage Disequilibrium, and identifying recombination hotspots using SNP data. Genetics, 165:2213–2233.

Stephens, M. and Donnelly, P. (2003). A comparison of Bayesian methods for haplotype reconstruction. American Journal of Human Genetics,73:1162–1169.

Falush, D., Stephens, M., and Pritchard J.K. (2003). Inference of population structure from multilocus genotype data: linked loci and correlated allele frequencies. Genetics, 164 : 1567–1587.

Stephens, M., Smith N.J. and Donnelly, P. (2001). A new statistical method for haplotype reconstruction from population data. American Journal of Human Genetics, 68 : 978–989.

Pritchard, J.K., Stephens, M. and Donnelly, P. (2000). Inference of population structure using multilocus genotype data. Genetics, 155 : 945–959.

Stephens, M. and Donnelly, P. (2000). Inference in molecular population genetics. Journal of the Royal Statistical Society, Series B, 62 : 605–655.

Stephens,M. (2000). Bayesian analysis ofmixtures with an unknown number of components—an alternative to reversible jump methods. Annals of Statistics, 28 : 40–74.