Research Description

My research group tackles the following questions. What is the nature and extent of genetic variation within and between human populations? What are the biological and evolutionary processes that have produced the observed patterns of variation? How do genotypes contribute to phenotypes for complex traits (and how can we identify the relevant genetic variants)?

In our work, we develop new statistical methods for genetic analysis and also analyze data from humans and other organisms. Much of our statistical work makes use of computationally intensive approaches such as Markov chain Monte Carlo; these approaches can be effective for extracting subtle signals from large and complex data sets. In general, we aim to tackle problems where careful analysis, usually from a population genetic perspective, seems likely to yield new biological insights.

The scope of our past and ongoing research includes work in four main areas: (i) methods for gene mapping of complex traits; (ii) inference of population structure from genetic data; (iii) history and structure of human populations; and (iv) genome variation and evolution. We also distribute a number of programs and software packages, including the popular package structure for inferring population structure from genetic data [see Software link on the Pritchard Lab Home Page].

We are based in the Department of Human Genetics at the University of Chicago. Both our department, and the university in general, are very strong in population genetics, complex traits, and evolutionary biology. In particular we enjoy close ties with the labs led by Molly Przeworski, Matthew Stephens, Yoav Gilad, Anna Di Rienzo, Nancy Cox and Carole Ober.

Selected Publications

DNase I sensitivity QTLs are a major determinant of human expression variation.

Degner JF, Pai AA, Pique-Regi R, Veyrieras JB, Gaffney DJ, Pickrell JK, De Leon S, Michelini K, Lewellen N, Crawford GE, Stephens M, Gilad Y, Pritchard JK

(Feb 2012) Nature 482(7385):390-4 PMID:22307276

Understanding mechanisms underlying human gene expression variation with RNA sequencing.

Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK.

(2010) Nature 464:768-72. [PDF]

The role of geography in human adaptation.

Coop G, Pickrell JK, Novembre J, Kudaravalli S, Li J, Absher D, Myers RM, Cavalli-Sforza LL, Feldman MW, Pritchard JK.

(2009) PLoS Genetics 5:e1000500. [PDF]

High-Resolution Mapping of Crossovers Reveals Extensive Variation in Fine-Scale Recombination Patterns Among Humans.

G Coop, X Wen, C Ober, JK Pritchard and M Przeworski.

(2008) Science 319: 1395-1398. [PDF]

A Map of Recent Positive Selection in the Human Genome.

BF Voight, S Kudaravalli, X Wen and JK Pritchard

(2006) PLoS Biology 4(3): e72 [PDF], [Haplotter]

Sequencing and Analysis of Neanderthal Genomic DNA.

JP Noonan, G Coop, S Kudaravalli, D Smith, J Krause, J Alessi, F Chen, D Platt, S Paabo, JK Pritchard, EM Rubin.

(2006) Science 314:1113-1118. [PDF]

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome.

DF Conrad, M Jakobsson, G Coop, X Wen, JD Wall, NA Rosenberg, JK Pritchard.

(2006) Nature Genetics 38:1251-60. [PDF]

A high-resolution survey of deletion polymorphism in the human genome.

D. F. Conrad, T D. Andrews, N. P. Carter, M. E. Hurles and J. K. Pritchard

(2006) Nature Genetics 38:75-81. [PDF]

The genetic structure of human populations.

N.A. Rosenberg, J.K. Pritchard, J.L. Weber, H.M. Cann, K.K. Kidd, L.A. Zhivotovsky and M.W. Feldman

(2002) Science 298: 2381-2385. [PDF]

Linkage disequilibrium in humans: models and data.

J.K. Pritchard and M. Przeworski

(2001) Am. J. Hum. Genet 69:1-14 [PDF]

Inference of population structure using multilocus genotype data.

J.K. Pritchard, M. Stephens and P. J. Donnelly

(2000) Genetics 155: 945-959. [PDF], [Software].

Use of unlinked genetic markers to detect population stratification in association studies.

JK Pritchard and NA Rosenberg

(1999) Am. J. of Hum. Gen. 65: 220-228. [PDF]

Population growth of human Y chromosomes: a study of Y chromosome microsatellites.

JK Pritchard, MT Seielstad, A Perez-Lezaun and MW Feldman

(1999) Mol. Biol. Evol. 16:1791-1798. [PDF]