Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

[1]  David Comas,et al.  Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa , 2014, PLoS genetics.

[2]  Pavlos Pavlidis,et al.  1000 Genomes Selection Browser 1.0: a genome browser dedicated to signatures of natural selection in modern humans , 2013, Nucleic Acids Res..

[3]  Gabor T. Marth,et al.  Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics , 2013, Science.

[4]  Min Hu,et al.  FOXP2 targets show evidence of positive selection in European populations. , 2013, American journal of human genetics.

[5]  R. Ferriani,et al.  Caldesmon: New Insights for Diagnosing Endometriosis1 , 2013, Biology of reproduction.

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

[7]  Hwee Tong Tan,et al.  Identification and functional validation of caldesmon as a potential gastric cancer metastasis-associated protein. , 2013, Journal of proteome research.

[8]  J. Mandl,et al.  Keratinocyte ATP binding cassette transporter expression is regulated by ultraviolet light. , 2012, Journal of photochemistry and photobiology. B, Biology.

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

[10]  C. Scott,et al.  Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction , 2012, Cell and Tissue Research.

[11]  J. Abrams,et al.  Smooth muscle caldesmon modulates peristalsis in the wild type and non‐innervated zebrafish intestine , 2012, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

[12]  B. Maher,et al.  ZNF804a Regulates Expression of the Schizophrenia-Associated Genes PRSS16, COMT, PDE4B, and DRD2 , 2012, PloS one.

[13]  M. Akiyama,et al.  Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis , 2011, Disease Models & Mechanisms.

[14]  Gabor T. Marth,et al.  Demographic history and rare allele sharing among human populations , 2011, Proceedings of the National Academy of Sciences.

[15]  Gonçalo R. Abecasis,et al.  The variant call format and VCFtools , 2011, Bioinform..

[16]  D. Rujescu,et al.  Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder , 2011, Molecular Psychiatry.

[17]  Jonathan K. Pritchard,et al.  Adaptations to Climate-Mediated Selective Pressures in Humans , 2011, PLoS genetics.

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

[19]  Giovanna Morelli,et al.  Phylogenetic diversity and historical patterns of pandemic spread of Yersinia pestis , 2010, Nature Genetics.

[20]  A. Gylfason,et al.  Fine-scale recombination rate differences between sexes, populations and individuals , 2010, Nature.

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

[22]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[23]  Tsun-Po Yang,et al.  Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies , 2010, Bioinform..

[24]  B. Kessler,et al.  Post‐translational modification of the deubiquitinating enzyme otubain 1 modulates active RhoA levels and susceptibility to Yersinia invasion , 2010, The FEBS journal.

[25]  Joseph K. Pickrell,et al.  The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation , 2010, Current Biology.

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

[27]  D. Conrad,et al.  Population Differentiation as an Indicator of Recent Positive Selection in Humans: An Empirical Evaluation , 2009, Genetics.

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

[29]  P. Green,et al.  Widespread Genomic Signatures of Natural Selection in Hominid Evolution , 2009, PLoS genetics.

[30]  M. Nalls,et al.  Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene , 2009, PLoS genetics.

[31]  Gary K. Chen,et al.  Fast and flexible simulation of DNA sequence data. , 2008, Genome research.

[32]  M. Akiyama,et al.  Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. , 2008, Human molecular genetics.

[33]  C. Spencer,et al.  Identification of loci associated with schizophrenia by genome-wide association and follow-up , 2008, Nature Genetics.

[34]  Nicholas G Martin,et al.  A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. , 2008, American journal of human genetics.

[35]  Hans Eiberg,et al.  Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression , 2008, Human Genetics.

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

[37]  Y. Koda,et al.  Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2 , 2006, International Journal of Legal Medicine.

[38]  D. Charlesworth.  Balancing Selection and Its Effects on Sequences in Nearby Genome Regions , 2006, PLoS genetics.

[39]  Xiaoquan Wen,et al.  Correction: A Map of Recent Positive Selection in the Human Genome , 2006, PLoS Biology.

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

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

[42]  S. Gabriel,et al.  Calibrating a coalescent simulation of human genome sequence variation. , 2005, Genome research.

[43]  M. Olivier.  A haplotype map of the human genome , 2003, Nature.

[44]  M. Olivier.  A haplotype map of the human genome. , 2003, Nature.

[45]  B. Charlesworth,et al.  The effect of deleterious mutations on neutral molecular variation. , 1993, Genetics.

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

[47]  P. Smith,et al.  The Descent of Man, and Selection in Relation to Sex , 1871, Nature.

[48]  J. Akey.  Where Do We Go from Here? Constructing Genomic Maps of Positive Selection in Humans: Material Supplemental , 2022 .

[49]  Brad T. Sherman,et al.  Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.

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

[51]  H. Bandelt,et al.  Median-joining networks for inferring intraspecific phylogenies. , 1999, Molecular biology and evolution.

[52]  Vladimir I. Levenshtein,et al.  Binary codes capable of correcting deletions, insertions, and reversals , 1965 .

[53]  N. Pierce.  Origin of Species , 1914, Nature.