Recent progress in polymorphism-based population genetic inference.

The recent availability of whole-genome sequencing data affords tremendous power for statistical inference. With this, there has been great interest in the development of polymorphism-based approaches for the estimation of population genetic parameters. These approaches seek to estimate, for example, recently fixed or sweeping beneficial mutations, the rate of recurrent positive selection, the distribution of selection coefficients, and the demographic history of the population. Yet despite estimating similar parameters using similar data sets, results between methodologies are far from consistent. We here summarize the current state of the field, compare existing approaches, and attempt to reconcile emerging discrepancies. We also discuss the biases in selection estimators introduced by ignoring the demographic history of the population, discuss the biases in demographic estimators introduced by assuming neutrality, and highlight the important challenge to the field of achieving a true joint estimation procedure to circumvent these confounding effects.

[1]  Justin C. Fay,et al.  Hitchhiking under positive Darwinian selection. , 2000, Genetics.

[2]  M Kimura,et al.  SOLUTION OF A PROCESS OF RANDOM GENETIC DRIFT WITH A CONTINUOUS MODEL. , 1955, Proceedings of the National Academy of Sciences of the United States of America.

[3]  W. Stephan,et al.  Analysis of a genetic hitchhiking model, and its application to DNA polymorphism data from Drosophila melanogaster. , 1993, Molecular biology and evolution.

[4]  B. Charlesworth,et al.  Estimating Selection on Nonsynonymous Mutations , 2006, Genetics.

[5]  D. Petrov,et al.  Genomewide Spatial Correspondence Between Nonsynonymous Divergence and Neutral Polymorphism Reveals Extensive Adaptation in Drosophila , 2007, Genetics.

[6]  M. Kreitman,et al.  Adaptive protein evolution at the Adh locus in Drosophila , 1991, Nature.

[7]  L. Excoffier,et al.  Efficient Approximate Bayesian Computation Coupled With Markov Chain Monte Carlo Without Likelihood , 2009, Genetics.

[8]  Molly Przeworski,et al.  The signature of positive selection at randomly chosen loci. , 2002, Genetics.

[9]  R. Nielsen,et al.  Linkage Disequilibrium as a Signature of Selective Sweeps , 2004, Genetics.

[10]  D. Balding,et al.  Approximate Bayesian computation in population genetics. , 2002, Genetics.

[11]  Kevin R. Thornton,et al.  An Approximate Bayesian Estimator Suggests Strong, Recurrent Selective Sweeps in Drosophila , 2008, PLoS genetics.

[12]  Or Zuk,et al.  A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection , 2010, Science.

[13]  N L Kaplan,et al.  The "hitchhiking effect" revisited. , 1989, Genetics.

[14]  S. Wooding,et al.  The matrix coalescent and an application to human single-nucleotide polymorphisms. , 2002, Genetics.

[15]  W. K. Hastings,et al.  Monte Carlo Sampling Methods Using Markov Chains and Their Applications , 1970 .

[16]  W. Stephan,et al.  Searching for Footprints of Positive Selection in Whole-Genome SNP Data From Nonequilibrium Populations , 2010, Genetics.

[17]  M. Kimmel,et al.  New explicit expressions for relative frequencies of single-nucleotide polymorphisms with application to statistical inference on population growth. , 2003, Genetics.

[18]  Carlos D Bustamante,et al.  Localizing Recent Adaptive Evolution in the Human Genome , 2007, PLoS genetics.

[19]  R. Hudson,et al.  Maximum-Likelihood Estimation of Demographic Parameters Using the Frequency Spectrum of Unlinked Single-Nucleotide Polymorphisms , 2004, Genetics.

[20]  J. Hey Isolation with migration models for more than two populations. , 2010, Molecular biology and evolution.

[21]  M. Beaumont,et al.  Likelihood-Free Inference of Population Structure and Local Adaptation in a Bayesian Hierarchical Model , 2010, Genetics.

[22]  J K Kelly,et al.  A test of neutrality based on interlocus associations. , 1997, Genetics.

[23]  Yun S. Song,et al.  The Hitchhiking Effect on Linkage Disequilibrium Between Linked Neutral Loci , 2006, Genetics.

[24]  F. Tajima Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. , 1989, Genetics.

[25]  P. Keightley,et al.  Estimating the rate of adaptive molecular evolution in the presence of slightly deleterious mutations and population size change. , 2009, Molecular biology and evolution.

[26]  W Stephan,et al.  The hitchhiking effect on the site frequency spectrum of DNA polymorphisms. , 1995, Genetics.

[27]  Pardis C Sabeti,et al.  Detecting recent positive selection in the human genome from haplotype structure , 2002, Nature.

[28]  R. Nielsen,et al.  Multilocus Methods for Estimating Population Sizes, Migration Rates and Divergence Time, With Applications to the Divergence of Drosophila pseudoobscura and D. persimilis , 2004, Genetics.

[29]  Deborah A Nickerson,et al.  Genomic regions exhibiting positive selection identified from dense genotype data. , 2005, Genome research.

[30]  D. Petrov,et al.  Pervasive Natural Selection in the Drosophila Genome? , 2009, PLoS genetics.

[31]  Peter Andolfatto,et al.  Hitchhiking effects of recurrent beneficial amino acid substitutions in the Drosophila melanogaster genome. , 2007, Genome research.

[32]  M. Przeworski,et al.  A new approach to estimate parameters of speciation models with application to apes. , 2007, Genome research.

[33]  C. Bustamante,et al.  Distinguishing Between Selective Sweeps and Demography Using DNA Polymorphism Data , 2005, Genetics.

[34]  Kevin R. Thornton,et al.  Automating approximate Bayesian computation by local linear regression , 2009, BMC Genetics.

[35]  J. Wakeley,et al.  The Influence of Gene Conversion on Linkage Disequilibrium Around a Selective Sweep , 2008, Genetics.

[36]  Kevin R. Thornton,et al.  On the Utility of Linkage Disequilibrium as a Statistic for Identifying Targets of Positive Selection in Nonequilibrium Populations , 2007, Genetics.

[37]  Hugues Roest Crollius,et al.  Human and Non-Human Primate Genomes Share Hotspots of Positive Selection , 2010, PLoS genetics.

[38]  Carlos Bustamante,et al.  Genomic scans for selective sweeps using SNP data. , 2005, Genome research.

[39]  Kevin R. Thornton,et al.  Approximate Bayesian Inference Reveals Evidence for a Recent, Severe Bottleneck in a Netherlands Population of Drosophila melanogaster , 2006, Genetics.

[40]  Gil McVean,et al.  The Structure of Linkage Disequilibrium Around a Selective Sweep , 2007, Genetics.

[41]  W. Stephan,et al.  Inferring the Demographic History and Rate of Adaptive Substitution in Drosophila , 2006, PLoS genetics.

[42]  David Reich,et al.  Population differentiation as a test for selective sweeps. , 2010, Genome research.

[43]  J. M. Smith,et al.  The hitch-hiking effect of a favourable gene. , 1974, Genetical research.

[44]  Yuseob Kim Allele Frequency Distribution Under Recurrent Selective Sweeps , 2006, Genetics.

[45]  Kevin R. Thornton,et al.  Progress and prospects in mapping recent selection in the genome , 2007, Heredity.

[46]  Ryan D. Hernandez,et al.  Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data , 2009, PLoS genetics.

[47]  C. Aquadro,et al.  Levels of naturally occurring DNA polymorphism correlate with recombination rates in D. melanogaster , 1992, Nature.

[48]  Ryan D. Hernandez,et al.  Simultaneous inference of selection and population growth from patterns of variation in the human genome , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[49]  R. Nielsen Molecular signatures of natural selection. , 2005, Annual review of genetics.

[50]  W. Stephan,et al.  Detecting a local signature of genetic hitchhiking along a recombining chromosome. , 2002, Genetics.

[51]  J. Parsch,et al.  The influence of demography and weak selection on the McDonald-Kreitman test: an empirical study in Drosophila. , 2008, Molecular biology and evolution.

[52]  R. Nielsen,et al.  Distinguishing migration from isolation: a Markov chain Monte Carlo approach. , 2001, Genetics.

[53]  Christian Schlötterer,et al.  Distinguishing Positive Selection From Neutral Evolution: Boosting the Performance of Summary Statistics , 2011, Genetics.

[54]  P. Andolfatto Controlling Type-I Error of the McDonald–Kreitman Test in Genomewide Scans for Selection on Noncoding DNA , 2008, Genetics.

[55]  N. Metropolis,et al.  Equation of State Calculations by Fast Computing Machines , 1953, Resonance.

[56]  G. McVean,et al.  The effects of Hill-Robertson interference between weakly selected mutations on patterns of molecular evolution and variation. , 2000, Genetics.

[57]  Zhaohui S. Qin,et al.  Genome-wide detection and characterization of positive selection in human populations , 2007 .

[58]  J. Pritchard,et al.  A Map of Recent Positive Selection in the Human Genome , 2006, PLoS biology.

[59]  G. A. Watterson On the number of segregating sites in genetical models without recombination. , 1975, Theoretical population biology.

[60]  P. Andolfatto Adaptive evolution of non-coding DNA in Drosophila , 2005, Nature.