Research Topics
Species | Peter DonnellySummaryAffiliation: University of Oxford Country: UK Publications
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Detail Information
Publications
Progress and challenges in genome-wide association studies in humansPeter Donnelly
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Nature 456:728-31. 2008..Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention...
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic strokeCeline Bellenguez
Wellcome Trust Centre for Human Genetics, University of Oxford, UK
Nat Genet 44:328-33. 2012..28-1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes...
A fine-scale map of recombination rates and hotspots across the human genomeSimon Myers
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
Science 310:321-4. 2005....- Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagusZhan Su
Wellcome Trust Centre for Human Genetics, Oxford, UK
Nat Genet 44:1131-6. 2012..We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus... - A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selectionGeorge Nicholson
Department of Statistics, University of Oxford, Oxford, United Kingdom
PLoS Genet 7:e1002270. 2011.... - Human metabolic profiles are stably controlled by genetic and environmental variationGeorge Nicholson
Department of Statistics, University of Oxford, Oxford, UK
Mol Syst Biol 7:525. 2011..We provide a power-calculation method which reveals that sample sizes of a few thousand should offer sufficient statistical precision to detect ¹H NMR-based biomarkers quantifying predisposition to disease... - Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombinationSimon Myers
Department of Statistics, Oxford University, 1 South Parks Road, Oxford OX1 3TG, UK
Science 327:876-9. 2010..The involvement of PRDM9, which causes histone H3 lysine 4 trimethylation, implies that there is a common mechanism for recombination hotspots in eukaryotes but raises questions about what forces have driven such rapid change... - The effects of human population structure on large genetic association studiesJonathan 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... - A common sequence motif associated with recombination hot spots and genome instability in humansSimon Myers
Broad Institute of Massachusetts Institute of Technology and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1124-9. 2008.... - A new multipoint method for genome-wide association studies by imputation of genotypesJonathan Marchini
Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
Nat Genet 39:906-13. 2007..A notable future use of our method will be to boost power by combining data from genome-wide scans that use different SNP sets... - A comparison of phasing algorithms for trios and unrelated individualsJonathan Marchini
Department of Statistics, University of Oxford, Oxford OX1 3TG, United Kingdom
Am J Hum Genet 78:437-50. 2006..Finally, we evaluated methods of estimating the value of r(2) between a pair of SNPs and concluded that all methods estimated r(2) well when the estimated value was >or=0.8... - The fine-scale structure of recombination rate variation in the human genomeGilean A T McVean
Department of Statistics, University of Oxford, Oxford OX1 3TG, UK
Science 304:581-4. 2004..We demonstrate that recombination hotspots are a ubiquitous feature of the human genome, occurring on average every 200 kilobases or less, but recombination occurs preferentially outside genes... - Patterns of Eurasian HSV-1 molecular diversity and inferences of human migrationsRory Bowden
MRC Virology Unit, Church Street, Glasgow G11 5JR, UK
Infect Genet Evol 6:63-74. 2006..A specific pattern detected amongst East Asian HSV-1 isolates is currently best explained by the two waves of migration responsible for the peopling of Japan... - Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria 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... - Genome-wide strategies for detecting multiple loci that influence complex diseasesJonathan 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... - Including known covariates can reduce power to detect genetic effects in case-control studiesMatti Pirinen
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Nat Genet 44:848-51. 2012..When the disease is common (prevalence of >20%), the inclusion of covariates typically increases power, whereas, for rarer diseases, it can often decrease power to detect new genetic associations... - People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control populationBruce Winney
Department of Oncology, University of Oxford, ORCRB, Headington, Oxford, UK
Eur J Hum Genet 20:203-10. 2012..Preliminary genotyping of 1057 samples demonstrates the value of these samples for investigating a fine-scale population structure within the UK, and shows how this can be enhanced by the use of surnames... - HAPGEN2: simulation of multiple disease SNPsZhan Su
Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK
Bioinformatics 27:2304-5. 2011..However, the inability of current methods to simulate multiple nearby disease SNPs on the same chromosome can limit their application... - A flexible and accurate genotype imputation method for the next generation of genome-wide association studiesBryan N Howie
Department of Statistics, University of Oxford, Oxford, UK
PLoS Genet 5:e1000529. 2009.... - A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1Amy Strange
Wellcome Trust Centre for Human Genetics, Oxford, UK
Nat Genet 42:985-90. 2010..Our findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis... - A robust clustering algorithm for identifying problematic samples in genome-wide association studiesCeline Bellenguez
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Bioinformatics 28:134-5. 2012..Its use as a semi-automated quality control tool is demonstrated using several summary statistics, selected to identify different potential problems, and it is applied to two different genotyping platforms and sample collections... - Quantifying the underestimation of relative risks from genome-wide association studiesChris Spencer
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
PLoS Genet 7:e1001337. 2011.... - A statistical method for predicting classical HLA alleles from SNP dataStephen Leslie
Department of Statistics, University of Oxford, Oxford OX1 3TG, UK
Am J Hum Genet 82:48-56. 2008....