Lon R Cardon

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms
    Carl A Anderson
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK
    Am J Hum Genet 83:112-9. 2008
  2. ncbi Using haplotype blocks to map human complex trait loci
    Lon R Cardon
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Trends Genet 19:135-40. 2003
  3. ncbi Genetics. Delivering new disease genes
    Lon R Cardon
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Science 314:1403-5. 2006
  4. ncbi Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genome Res 15:1503-10. 2005
  5. ncbi Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype
    J R Fraser Cummings
    Wellcome Trust Centre for Human Genetics, University of Oxford, and Gastroenterology Unit, Gibson Laboratories, Radcliffe Infirmary, Oxford, UK
    Inflamm Bowel Dis 13:1063-8. 2007
  6. ncbi Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Hum Mol Genet 13:2557-65. 2004
  7. ncbi A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:1046-58. 2004
  8. ncbi Marker selection for genetic case-control association studies
    Fredrik H Pettersson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Protoc 4:743-52. 2009
  9. ncbi The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants
    David A van Heel
    Wellcome Trust Centre for Human Genetics and Gastoenterology Unit, University of Oxford, UK
    Hum Mol Genet 12:2569-75. 2003
  10. ncbi Genotype prediction using a dense map of SNPs
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Genet Epidemiol 27:375-84. 2004

Detail Information

Publications73

  1. ncbi Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms
    Carl A Anderson
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK
    Am J Hum Genet 83:112-9. 2008
    ..Platforms consisting of around 1 million SNPs offer poor cost efficiency for SNP association in European populations...
  2. ncbi Using haplotype blocks to map human complex trait loci
    Lon R Cardon
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Trends Genet 19:135-40. 2003
    ..Knowledge of local disequilibrium patterns may help identify common polymorphisms involved in complex disease, but completely new analytical methods and experimental designs will be required to identify important rare variants...
  3. ncbi Genetics. Delivering new disease genes
    Lon R Cardon
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Science 314:1403-5. 2006
  4. ncbi Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genome Res 15:1503-10. 2005
    ..We describe the distribution of giSNPs on this map of chromosome 20 and illustrate the potential impact they can have on association mapping...
  5. ncbi Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype
    J R Fraser Cummings
    Wellcome Trust Centre for Human Genetics, University of Oxford, and Gastroenterology Unit, Gibson Laboratories, Radcliffe Infirmary, Oxford, UK
    Inflamm Bowel Dis 13:1063-8. 2007
    ..We further investigated the relationship between IL23R and ulcerative colitis (UC)...
  6. ncbi Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Hum Mol Genet 13:2557-65. 2004
    ..Encouragingly, whatever the density employed, a high level of robustness was observed between UK and CEPH samples, as most of the htSNPs selected in one sample were also appropriate as tags in the other...
  7. ncbi A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States
    Clyde Francks
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:1046-58. 2004
    ..In addition, the QTL effect may be largely limited to the severe range of reading disability...
  8. ncbi Marker selection for genetic case-control association studies
    Fredrik H Pettersson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Protoc 4:743-52. 2009
    ..Publicly available web-based resources are utilized to browse and retrieve data, and software, such as Haploview and Goldsurfer2, is applied to investigate LD and to select tagSNPs...
  9. ncbi The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants
    David A van Heel
    Wellcome Trust Centre for Human Genetics and Gastoenterology Unit, University of Oxford, UK
    Hum Mol Genet 12:2569-75. 2003
    ..These analyses demonstrate the complex genetic basis to Crohn's disease, and show that the discovery of disease-causing variants may be used to aid identification of further susceptibility loci in complex disease...
  10. ncbi Genotype prediction using a dense map of SNPs
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Genet Epidemiol 27:375-84. 2004
    ..These results suggest that pair-wise tests of disease-marker association may be inferior to multipoint methods, which take advantage of the information contained within multi-locus haplotypes...
  11. ncbi Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Reprod 22:717-28. 2007
    ..The aim was to investigate whether the apparent concentration of cases in a proportion of families could be explained by one or more rare variants with (near-)Mendelian autosomal inheritance...
  12. ncbi TUCAN (CARD8) genetic variants and inflammatory bowel disease
    Dermot P B McGovern
    Wellcome Trust Centre for Human Genetics, University of Oxford, Drive, Headington, Oxford OX3 7BN, England, UK
    Gastroenterology 131:1190-6. 2006
    ..TUCAN (CARD8) is located beneath a CD peak of linkage on chromosome 19q. TUCAN is expressed in the gut and is a negative regulator of NFkappaB, making it an excellent candidate gene for gastrointestinal inflammation...
  13. ncbi A comparison of tagging methods and their tagging space
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 14:2757-67. 2005
    ..These results indicate that the tagging space is highly concordant between different tagging methods, despite the fact that they often involve different sets of tagging SNPs...
  14. ncbi Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes
    Caroline Durrant
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:35-43. 2004
    ..The results of the simulation study highlight substantial gains in power over single-locus tests for a wide range of disease models, despite overcorrection for multiple testing...
  15. ncbi A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 76:681-7. 2005
    ....
  16. ncbi An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 37:1320-2. 2005
    ....
  17. ncbi The impact of SNP density on fine-scale patterns of linkage disequilibrium
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 13:577-88. 2004
    ..The results suggest that very dense marker sets will be required to yield stable views of fine-scale LD in the human genome...
  18. ncbi Optimizing the power of genome-wide association studies by using publicly available reference samples to expand the control group
    Joanna J Zhuang
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    Genet Epidemiol 34:319-26. 2010
    ..These axes are then included as covariates in association analysis to correct for population structure, which can result in increases in power over standard analysis of genetic information from the samples in the original GWA study...
  19. ncbi Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics
    David A van Heel
    Gastroenterology Unit, University of Oxford, Oxford, UK
    Am J Med Genet 111:253-9. 2002
    ..This study illustrates the difficulties facing microsatellite linkage and linkage disequilibrium mapping methods for identifying disease genes in complex traits...
  20. ncbi Use of multivariate linkage analysis for dissection of a complex cognitive trait
    Angela J Marlow
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 72:561-70. 2003
    ..The approach employed here may aid positional cloning of susceptibility genes in a wide spectrum of complex traits...
  21. ncbi GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    BMC Bioinformatics 10:367. 2009
    ..3 across the human genome for any SNP genotyped within HapMap phase 2 and 3, regardless of distance between the markers...
  22. ncbi Confirmation of the role of ATG16L1 as a Crohn's disease susceptibility gene
    J R Fraser Cummings
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Inflamm Bowel Dis 13:941-6. 2007
    ..The aims of the study were to replicate the association with CD, examine subphenotype associations and statistical interactions with CARD15, IL23R, and the IBD5 risk haplotype, as well as explore the association with UC...
  23. ncbi Two-stage two-locus models in genome-wide association
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 2:e157. 2006
    ....
  24. ncbi Aspects of observing and claiming allele flips in association studies
    Geraldine M Clarke
    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Genet Epidemiol 34:266-74. 2010
    ..We conclude that evidence of variation in local patterns of LD, ancestral composition of study samples, and environmental exposures between study populations can provide compelling practical evidence in defense of a genuine allele flip...
  25. ncbi Basic statistical analysis in genetic case-control studies
    Geraldine M Clarke
    Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Protoc 6:121-33. 2011
    ..Study design, marker selection and quality control of case-control studies have also been discussed in earlier protocols. The protocol should take ~1 h to complete...
  26. ncbi Genome-wide strategies for detecting multiple loci that influence complex diseases
    Jonathan Marchini
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Nat Genet 37:413-7. 2005
    ..These results suggest that searching for interactions among genetic loci can be fruitfully incorporated into analysis strategies for genome-wide association studies...
  27. ncbi Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Am J Hum Genet 75:687-92. 2004
    ..These results strongly suggest that previous linkage studies that employed sparse microsatellite maps could benefit substantially from reanalysis by use of a denser map of markers...
  28. ncbi Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  29. ncbi Fine mapping versus replication in whole-genome association studies
    Geraldine M Clarke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Am J Hum Genet 81:995-1005. 2007
    ..Our results provide a basis for the design and interpretation of GWA replication studies and point to the importance of a clear distinction between fine mapping and replication after GWA...
  30. ncbi The complex interplay among factors that influence allelic association
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Rev Genet 5:89-100. 2004
  31. ncbi Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    Mark I McCarthy
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Rev Genet 9:356-69. 2008
    ....
  32. ncbi Disentangling linkage disequilibrium and linkage from dense single-nucleotide polymorphism trio data
    Geraldine M Clarke
    Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
    Genetics 171:2085-95. 2005
    ..0 shows detection of the same coldspots and most hotspots: The Spearman rank correlation between the estimates from our method and those from PHASE is 0.58 (p < 2.2(-16))...
  33. ncbi Prospects and pitfalls in whole genome association studies
    Robert W Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Philos Trans R Soc Lond B Biol Sci 360:1589-95. 2005
    ..Here we discuss the promise and current challenges of the whole genome approach, and raise some issues to consider in interpreting the results of the first whole genome studies...
  34. ncbi How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 28:1-10. 2005
    ....
  35. ncbi The effects of human population structure on large genetic association studies
    Jonathan Marchini
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Nat Genet 36:512-7. 2004
    ..The results of our analysis can guide the design of large-scale association studies...
  36. ncbi Designing candidate gene and genome-wide case-control association studies
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Protoc 2:2492-501. 2007
    ..Running each of the programs takes only a few seconds; the rate-limiting steps involve thinking through the designs and parameters in the disease models...
  37. ncbi Singleton SNPs in the human genome and implications for genome-wide association studies
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 16:506-15. 2008
    ....
  38. ncbi Data quality control in genetic case-control association studies
    Carl A Anderson
    Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Protoc 5:1564-73. 2010
    ..Issues concerning study design and marker selection in case-control studies have been discussed in our earlier protocols. This protocol, which is routinely used in our labs, should take approximately 8 h to complete...
  39. ncbi Multivariate genetic analysis of chronic pelvic pain and associated phenotypes
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, United Kingdom
    Behav Genet 35:177-88. 2005
    ..CPP itself is unlikely to be a useful independent phenotype to conduct genetic aetiological studies; contributing conditions such as endometriosis and variation in nociception are likely to provide more useful phenotypes...
  40. ncbi Evaluating coverage of genome-wide association studies
    Jeffrey C Barrett
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 38:659-62. 2006
    ..Overall, despite substantial differences in genotyping technologies, marker selection strategies and number of markers assayed, the first-generation high-throughput platforms all offer similar levels of genome coverage...
  41. ncbi Genome-wide association: a promising start to a long race
    David M Evans
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Trends Genet 22:350-4. 2006
    ..These issues must be considered carefully if the GWA approach is to succeed in mapping complex phenotypes...
  42. ncbi Efficient selective screening of haplotype tag SNPs
    Xiayi Ke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Bioinformatics 19:287-8. 2003
    ..The program offers several options for inclusion/exclusion of specific markers and presents alternative panels for final selection. AVAILABILITY: The www-based program is available at http://www.well.ox.ac.uk/~xiayi/haplotype/index.html...
  43. ncbi Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds
    Javier Gayan
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 32:445-53. 2008
    ..14 at 5q32). All these regions harbor candidate genes that are potential HD modifier genes. Finding these modifier genes can reveal accessible and promising new therapeutic pathways and targets to ameliorate and cure HD...
  44. ncbi Familial aggregation of endometriosis in a large pedigree of rhesus macaques
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Hum Reprod 19:448-55. 2004
    ..Endometriosis occurs in several non-human primate species that have menstrual cycles. This study investigated the prevalence and familial aggregation of endometriosis in one of those species, the rhesus macaque...
  45. ncbi Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia
    Simon E Fisher
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK
    Nat Genet 30:86-91. 2002
    ..This is the first report of QTL-based genome-wide scanning for a human cognitive trait...
  46. ncbi Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey C Barrett
    Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 40:955-62. 2008
    ..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
  47. ncbi To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?
    David M Evans
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 16:718-23. 2008
    ....
  48. ncbi Evaluating the results of genomewide linkage scans of complex traits by locus counting
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute, Imperial College, London, United Kingdom
    Am J Hum Genet 71:1175-82. 2002
    ..By taking account of the effects of reduced data informativeness on the expected number of regions showing evidence for linkage, a more meaningful, and less conservative, evaluation of the results from such linkage studies is possible...
  49. ncbi The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits
    Josine L Min
    Genetic and Genomic Epidemiology Unit, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 6:e22070. 2011
    ..Nevertheless, larger tissue-specific expression data sets relevant to specific traits are becoming available, and should enable the adoption of similar integrated analyses in the near future...
  50. ncbi Goldsurfer2 (Gs2): a comprehensive tool for the analysis and visualization of genome wide association studies
    Fredrik Pettersson
    Dept Bioinformatics, Wellcome Trust Centre, Oxford, UK
    BMC Bioinformatics 9:138. 2008
    ..Finally significant associations need to be prioritised using functional and biological interpretation methods, browsing available biological annotation, pathway information and patterns of linkage disequilibrium (LD)...
  51. ncbi Population stratification and spurious allelic association
    Lon R Cardon
    Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, Oxford, UK
    Lancet 361:598-604. 2003
    ..We discuss past evidence for population stratification on genotype-phenotype association studies, review methods to detect and account for it, and present suggestions for future study design and analysis...
  52. ncbi Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors
    David A van Heel
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 11:1281-9. 2002
    ..Detailed functional analyses of these interactions in gut macrophages, in addition to further genetic mapping of this gene-dense region, will be critical to understand the significance of the observed association of TNF(-857C) with IBD...
  53. ncbi Merlin--rapid analysis of dense genetic maps using sparse gene flow trees
    Goncalo R Abecasis
    The Wellcome Trust Center for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    Nat Genet 30:97-101. 2002
    ....
  54. ncbi What makes a good case-control study? Design issues for complex traits such as endometriosis
    Krina T Zondervan
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 6BN, UK
    Hum Reprod 17:1415-23. 2002
    ..Only adequately designed studies will allow reliable results to be obtained and any true aetiologic heterogeneity expected to underlie a complex trait to be detected...
  55. ncbi Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
    Sheila A Fisher
    Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Nat Genet 40:710-2. 2008
    ..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases...
  56. ncbi Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....
  57. ncbi Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute and Division of Medicine, Imperial College, London, United Kingdom
    Am J Hum Genet 70:543-6. 2002
    ..Our findings extend similar recent studies in Scandinavian and Quebecois populations, adding further evidence that height is indeed under the control of multiple genes...
  58. ncbi A first-generation linkage disequilibrium map of human chromosome 22
    Elisabeth Dawson
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 418:544-8. 2002
    ..This study demonstrates the feasibility of developing genome-wide maps of LD...
  59. ncbi Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder
    Erik G Willcutt
    Institute for Behavioral Genetics, University of Colorado, Boulder, Colorado 80309, USA
    Am J Med Genet 114:260-8. 2002
    ....
  60. ncbi Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    Paul R Burton
    Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
    Nat Genet 39:1329-37. 2007
    ....
  61. ncbi Fine-scale map of encyclopedia of DNA elements regions in the Korean population
    Yeon-Kyeong Yoo
    DNA Link, Seoul, 120-110, Korea
    Genetics 174:491-7. 2006
    ..These results demonstrate that the HapMap variation maps are robust in related populations and will serve as an important resource for the studies of the Korean population in particular...
  62. ncbi Functional epistasis on a common MHC haplotype associated with multiple sclerosis
    Jon W Gregersen
    Department of Clinical Immunology, Aarhus University Hospital, Skejby Sygehus, 8200 N, Aarhus, Denmark
    Nature 443:574-7. 2006
    ....
  63. ncbi The portability of tagSNPs across populations: a worldwide survey
    Anna Gonzalez-Neira
    Unitat de Biologia Evolutiva, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain
    Genome Res 16:323-30. 2006
    ..This high degree of portability lends promise to the search for disease association in different populations, once tagSNPs are defined in a few reference populations like those analyzed in the HapMap initiative...
  64. ncbi Measures of human population structure show heterogeneity among genomic regions
    Bruce S Weir
    Program in Statistical Genetics, Department of Statistics, North Carolina State University, Raleigh, North Carolina 27695 7566, USA
    Genome Res 15:1468-76. 2005
    ..Furthermore, it may be that the best indications of selection will come from population-specific F(ST) values rather than the usually reported population-average values...
  65. ncbi A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  66. ncbi Shaking the tree: mapping complex disease genes with linkage disequilibrium
    Lyle J Palmer
    Western Australian Institute for Medical Research and University of Western Australia Centre for Medical Research, University of Western Australia
    Lancet 366:1223-34. 2005
    ....
  67. ncbi The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis
    Andrew E Timms
    Institute of Musculoskeletal Sciences, University of Oxford, Botnar Research Centre, Oxford, United Kingdom
    Am J Hum Genet 75:587-95. 2004
    ..In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS...
  68. ncbi GOLDsurfer: three dimensional display of linkage disequilibrium
    Fredrik Pettersson
    Department of Organic Chemistry, , Sweden
    Bioinformatics 20:3241-3. 2004
    ..Simultaneous presentation of LD measures, including recombination rate estimates and disease association statistics, helps to clarify LD patterns and facilitates interpretations based on multiple indices of local genetic data...
  69. ncbi Replicating genotype-phenotype associations
    Stephen J Chanock
    Division of Cancer Epidemiology and Genetics, Bethesda, Maryland 20892-4605, USA
    Nature 447:655-60. 2007
  70. ncbi A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
    David A van Heel
    Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK
    Nat Genet 39:827-9. 2007
    ..3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease...
  71. ncbi A second generation human haplotype map of over 3.1 million SNPs
    Kelly A Frazer
    The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
    Nature 449:851-61. 2007
    ..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations...
  72. ncbi Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, Oxford, U.K
    Diabetes 53:855-60. 2004
    ..These data provide additional evidence that genes mapping to these chromosomal regions are involved in the susceptibility to, and/or development of, type 2 diabetes...
  73. ncbi Genome-wide detection and characterization of positive selection in human populations
    Pardis C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
    Nature 449:913-8. 2007
    ....