1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans

Searching for Darwinian selection in natural populations has been the focus of a multitude of studies over the last decades. Here we present the 1000 Genomes Selection Browser 1.0 (http://hsb.upf.edu) as a resource for signatures of recent natural selection in modern humans. We have implemented and applied a large number of neutrality tests as well as summary statistics informative for the action of selection such as Tajima’s D, CLR, Fay and Wu’s H, Fu and Li’s F* and D*, XPEHH, ΔiHH, iHS, FST, ΔDAF and XPCLR among others to low coverage sequencing data from the 1000 genomes project (Phase 1; release April 2012). We have implemented a publicly available genome-wide browser to communicate the results from three different populations of West African, Northern European and East Asian ancestry (YRI, CEU, CHB). Information is provided in UCSC-style format to facilitate the integration with the rich UCSC browser tracks and an access page is provided with instructions and for convenient visualization. We believe that this expandable resource will facilitate the interpretation of signals of selection on different temporal, geographical and genomic scales.

[1]  Anna Ramírez-Soriano,et al.  Evolutionary dynamics of the human ABO gene , 2008, Human Genetics.

[2]  G. Hong,et al.  Nucleic Acids Research , 2015, Nucleic Acids Research.

[3]  M. Nei Molecular Evolutionary Genetics , 1987 .

[4]  Pardis C Sabeti,et al.  Positive Natural Selection in the Human Lineage , 2006, Science.

[5]  Joshua M Akey,et al.  Where do we go from here? Constructing genomic maps of positive selection in humans: , 2009 .

[6]  Pardis C Sabeti,et al.  Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes , 2009, Human molecular genetics.

[7]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

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

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

[10]  Melanie I. Stefan,et al.  Ten Simple Rules for Getting Help from Online Scientific Communities , 2011, PLoS Comput. Biol..

[11]  R. Nielsen Population genetic analysis of ascertained SNP data , 2004, Human Genomics.

[12]  T. Kupiec,et al.  Association of the SLC45A2 gene with physiological human hair colour variation , 2008, Journal of Human Genetics.

[13]  J. Wall,et al.  A comparison of estimators of the population recombination rate. , 2000, Molecular biology and evolution.

[14]  Mary Goldman,et al.  The UCSC Genome Browser database: extensions and updates 2011 , 2011, Nucleic Acids Res..

[15]  Christopher Phillips,et al.  ENGINES: exploring single nucleotide variation in entire human genomes , 2011, BMC Bioinformatics.

[16]  B S Weir,et al.  Estimating F-statistics. , 2002, Annual review of genetics.

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

[18]  L. Quintana-Murci,et al.  Natural selection has driven population differentiation in modern humans , 2008, Nature Genetics.

[19]  Joshua M Akey,et al.  Genomic signatures of positive selection in humans and the limits of outlier approaches. , 2006, Genome research.

[20]  Leena Peltonen,et al.  Identification of a variant associated with adult-type hypolactasia , 2002, Nature Genetics.

[21]  Tal Pupko,et al.  Improving the performance of positive selection inference by filtering unreliable alignment regions. , 2012, Molecular biology and evolution.

[22]  Life Technologies,et al.  A map of human genome variation from population-scale sequencing , 2011 .

[23]  Joseph K. Pickrell,et al.  Signals of recent positive selection in a worldwide sample of human populations. , 2009, Genome research.

[24]  Mary Goldman,et al.  The UCSC Genome Browser database: extensions and updates 2013 , 2012, Nucleic Acids Res..

[25]  Ryan D. Hernandez,et al.  Classic Selective Sweeps Were Rare in Recent Human Evolution , 2011, Science.

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

[27]  B. Weir,et al.  ESTIMATING F‐STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE , 1984, Evolution; international journal of organic evolution.

[28]  Eric S. Lander,et al.  Identifying Recent Adaptations in Large-Scale Genomic Data , 2013, Cell.

[29]  P. Luisi,et al.  Network-level and population genetics analysis of the insulin/TOR signal transduction pathway across human populations. , 2012, Molecular biology and evolution.

[30]  Jeffrey D. Wall,et al.  Recombination and the power of statistical tests of neutrality , 1999 .

[31]  Terrence S. Furey,et al.  The UCSC Table Browser data retrieval tool , 2004, Nucleic Acids Res..

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

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

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

[35]  J. Engelken,et al.  Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene. , 2012, Molecular biology and evolution.

[36]  Y. Fu,et al.  Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection. , 1997, Genetics.

[37]  A. Navarro,et al.  Statistical Power Analysis of Neutrality Tests Under Demographic Expansions, Contractions and Bottlenecks With Recombination , 2008, Genetics.

[38]  H. Hoekstra,et al.  Molecular spandrels: tests of adaptation at the genetic level , 2011, Nature Reviews Genetics.

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

[40]  Anders Albrechtsen,et al.  Calculation of Tajima’s D and other neutrality test statistics from low depth next-generation sequencing data , 2013, BMC Bioinformatics.

[41]  P. Hedrick,et al.  Evidence for balancing selection at HLA. , 1983, Genetics.

[42]  Keith C. Cheng,et al.  SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans , 2005, Science.

[43]  Tom H. Pringle,et al.  The human genome browser at UCSC. , 2002, Genome research.

[44]  W. Stephan,et al.  A critical assessment of storytelling: gene ontology categories and the importance of validating genomic scans. , 2012, Molecular biology and evolution.

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

[46]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[47]  J. Rozas,et al.  Statistical properties of new neutrality tests against population growth. , 2002, Molecular biology and evolution.

[48]  Pardis C Sabeti,et al.  Genome-wide detection and characterization of positive selection in human populations , 2007, Nature.

[49]  Wei Chen,et al.  A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. , 2007, American journal of human genetics.

[50]  Sébastien Moretti,et al.  Selectome: a database of positive selection , 2008, Nucleic Acids Res..

[51]  Pardis C Sabeti,et al.  Human evolutionary genomics: ethical and interpretive issues. , 2012, Trends in genetics : TIG.

[52]  M. Aguadé,et al.  DNA variation at the rp49 gene region of Drosophila simulans: evolutionary inferences from an unusual haplotype structure. , 2001, Genetics.

[53]  P. Luisi,et al.  Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation , 2012, BMC Evolutionary Biology.

[54]  Donald W. Bowden,et al.  Association of Trypanolytic ApoL 1 Variants with Kidney Disease in African Americans , 2010 .

[55]  Mark Stoneking,et al.  Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation. , 2008, PloS one.

[56]  C. Winkler,et al.  Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans , 2010, Science.

[57]  M. Nei,et al.  Mathematical model for studying genetic variation in terms of restriction endonucleases. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[58]  W. Li,et al.  Statistical tests of neutrality of mutations. , 1993, Genetics.

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

[60]  Nicholas H. Barton,et al.  The effect of hitch-hiking on neutral genealogies , 1998 .

[61]  M. Bamshad,et al.  Signatures of natural selection in the human genome , 2003, Nature Reviews Genetics.

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

[63]  L. Excoffier,et al.  Large Allele Frequency Differences between Human Continental Groups are more Likely to have Occurred by Drift During range Expansions than by Selection , 2009, Annals of human genetics.