Publications
396 results found
Droney JM, Gretton SK, Sato H, et al., 2013, Analgesia and central side-effects: two separate dimensions of morphine response, BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Vol: 75, Pages: 1340-1350, ISSN: 0306-5251
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- Citations: 29
Montgomery SB, Goode DL, Kvikstad E, et al., 2013, The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes, GENOME RESEARCH, Vol: 23, Pages: 749-761, ISSN: 1088-9051
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- Citations: 157
Duff RM, Simmonds NJ, Davies JC, et al., 2013, A molecular comparison of microbial communities in bronchiectasis and cystic fibrosis, EUROPEAN RESPIRATORY JOURNAL, Vol: 41, Pages: 991-993, ISSN: 0903-1936
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- Citations: 10
Liang L, Morar N, Dixon AL, et al., 2013, A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines, GENOME RESEARCH, Vol: 23, Pages: 716-726, ISSN: 1088-9051
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- Citations: 111
Melen E, Granell R, Kogevinas M, et al., 2013, Genome-wide association study of body mass index in 23000 individuals with and without asthma, CLINICAL AND EXPERIMENTAL ALLERGY, Vol: 43, Pages: 463-474, ISSN: 0954-7894
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- Citations: 61
Grossman SR, Andersen KG, Shlyakhter I, et al., 2013, Identifying Recent Adaptations in Large-Scale Genomic Data, CELL, Vol: 152, Pages: 703-713, ISSN: 0092-8674
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- Citations: 247
van der Harst P, Zhang W, Leach IM, et al., 2012, Seventy-five genetic loci influencing the human red blood cell, NATURE, Vol: 492, Pages: 369-+, ISSN: 0028-0836
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- Citations: 242
Xue Y, Chen Y, Ayub Q, et al., 2012, Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 91, Pages: 1022-1032, ISSN: 0002-9297
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- Citations: 206
Altshuler DM, Durbin RM, Abecasis GR, et al., 2012, An integrated map of genetic variation from 1,092 human genomes, Nature, Vol: 491, Pages: 56-65, ISSN: 0028-0836
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
Cardenas PA, Cooper PJ, Cox MJ, et al., 2012, Upper Airways Microbiota in Antibiotic-Naive Wheezing and Healthy Infants from the Tropics of Rural Ecuador, PLOS ONE, Vol: 7, ISSN: 1932-6203
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- Citations: 73
Jiang W, Johnson C, Jayaraman J, et al., 2012, Copy number variation leads to considerable diversity for B but not A haplotypes of the human KIR genes encoding NK cell receptors, Genome Res
Stöcklin L, Loss G, von Mutius E, et al., 2012, Health-related quality of life does not explain the protective effect of farming on allergies., Pediatr Allergy Immunol, Vol: 23, Pages: 519-521
BACKGROUND: Numerous studies report a protective effect of farming against allergic diseases. Some specific underlying exposures contributing to this effect have recently been described in the GABRIEL survey. So far, psycho-social factors have not been included in these analyses. METHODS: In order to assess the potential influence of health-related quality of life (HRQOL) on the protective effect of farming, 8259 school aged children from the European GABRIEL study answered questions concerning farming and allergic diseases, as well as validated questions about HRQOL. RESULTS: Farm children reported higher HRQOL than non farm children. However, HRQOL did not modify the protective effect of farming against allergies. Children with allergic diseases reported significantly lower HRQOL scores suggesting that the higher HRQOL of farm children was in part explained by the lower prevalence of these diseases among farm children. CONCLUSION: Although farm children reported higher HRQOL scores than did non-farm children, HRQOL did not explain the protective effect of farming against allergic diseases. The relationship between allergic diseases and HRQOL is likely bidirectional and needs to be assessed prospectively.
Wan YI, Shrine NRG, Artigas MS, et al., 2012, Genome-wide association study to identify genetic determinants of severe asthma, THORAX, Vol: 67, Pages: 762-768, ISSN: 0040-6376
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- Citations: 130
Salm MPA, Horswell SD, Hutchison CE, et al., 2012, The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism, GENOME RESEARCH, Vol: 22, Pages: 1144-1153, ISSN: 1088-9051
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- Citations: 54
Dizier M-H, Margaritte-Jeannin P, Madore A-M, et al., 2012, The <i>ANO3</i>/<i>MUC15</i> locus is associated with eczema in families ascertained through asthma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 129, Pages: 1547-+, ISSN: 0091-6749
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- Citations: 16
Han MK, Huang YJ, LiPuma JJ, et al., 2012, Significance of the microbiome in obstructive lung disease, THORAX, Vol: 67, Pages: 456-463, ISSN: 0040-6376
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- Citations: 161
Clarke L, Zheng-Bradley X, Smith R, et al., 2012, The 1000 Genomes Project: data management and community access, NATURE METHODS, Vol: 9, Pages: 1-4, ISSN: 1548-7091
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- Citations: 222
Everitt AR, Clare S, Pertel T, et al., 2012, IFITM3 restricts the morbidity and mortality associated with influenza., Nature, Vol: 484, Pages: 519-523
The 2009 H1N1 influenza pandemic showed the speed with which a novel respiratory virus can spread and the ability of a generally mild infection to induce severe morbidity and mortality in a subset of the population. Recent in vitro studies show that the interferon-inducible transmembrane (IFITM) protein family members potently restrict the replication of multiple pathogenic viruses1, 2, 3, 4, 5, 6, 7. Both the magnitude and breadth of the IFITM proteins’ in vitro effects suggest that they are critical for intrinsic resistance to such viruses, including influenza viruses. Using a knockout mouse model8, we now test this hypothesis directly and find that IFITM3 is essential for defending the host against influenza A virus in vivo. Mice lacking Ifitm3 display fulminant viral pneumonia when challenged with a normally low-pathogenicity influenza virus, mirroring the destruction inflicted by the highly pathogenic 1918 ‘Spanish’ influenza9, 10. Similar increased viral replication is seen in vitro, with protection rescued by the re-introduction of Ifitm3. To test the role of IFITM3 in human influenza virus infection, we assessed the IFITM3 alleles of individuals hospitalized with seasonal or pandemic influenza H1N1/09 viruses. We find that a statistically significant number of hospitalized subjects show enrichment for a minor IFITM3 allele (SNP rs12252-C) that alters a splice acceptor site, and functional assays show the minor CC genotype IFITM3 has reduced influenza virus restriction in vitro. Together these data reveal that the action of a single intrinsic immune effector, IFITM3, profoundly alters the course of influenza virus infection in mouse and humans.
Zhang M, Liang L, Morar N, et al., 2012, Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma, HUMAN GENETICS, Vol: 131, Pages: 615-623, ISSN: 0340-6717
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- Citations: 24
Sim K, Cox MJ, Wopereis H, et al., 2012, Improved Detection of Bifidobacteria with Optimised 16S rRNA-Gene Based Pyrosequencing, PLoS One, Vol: 7, Pages: e32543-e32543
The 16S rRNA gene is conserved across all bacteria and as such is routinely targeted in PCR surveys of bacterial diversity. PCR primer design aims to amplify as many different 16S rRNA gene sequences from as wide a range of organisms as possible, though there are no suitable 100% conserved regions of the gene, leading to bias. In the gastrointestinal tract, bifidobacteria are a key genus, but are often under-represented in 16S rRNA surveys of diversity. We have designed modified, 'bifidobacteria-optimised' universal primers, which we have demonstrated detection of bifidobacterial sequence present in DNA mixtures at 2% abundance, the lowest proportion tested. Optimisation did not compromise the detection of other organisms in infant faecal samples. Separate validation using fluorescence in situ hybridisation (FISH) shows that the proportions of bifidobacteria detected in faecal samples were in agreement with those obtained using 16S rRNA based pyrosequencing. For future studies looking at faecal microbiota, careful selection of primers will be key in order to ensure effective detection of bifidobacteria.
Freidin MB, Bhudia N, Lim E, et al., 2012, Impact of Collection and Storage of Lung Tumor Tissue on Whole Genome Expression Profiling, JOURNAL OF MOLECULAR DIAGNOSTICS, Vol: 14, Pages: 140-148, ISSN: 1525-1578
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- Citations: 35
Ege M, Mayer M, Normand AC, et al., 2011, Microbial exposure and childhood asthma, Internistische Praxis, Vol: 51, Pages: 731-734, ISSN: 0020-9570
Ege M, Mayer M, Normand AC, et al., 2011, Microbial exposure and childhood asthma, Tagliche Praxis, Vol: 52, Pages: 777-780, ISSN: 0494-464X
Cox MJ, Jones AL, Loebinger MR, et al., 2011, MUCOIDY AND THE MICROBIOME: COMMUNITY COMPOSITION IN RELATION TO THE PRESENCE OF CULTURABLE, MUCOID <i>PSEUDOMONAS AERUGINOSA</i>, Winter Meeting of the British-Thoracic-Society, Publisher: B M J PUBLISHING GROUP, Pages: A24-A24, ISSN: 0040-6376
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- Citations: 2
Renz H, Autenrieth IB, Brandtzaeg P, et al., 2011, Gene-environment interaction in chronic disease: A European Science Foundation Forward Look, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 128, Pages: S27-S49, ISSN: 0091-6749
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- Citations: 27
Chambers JC, Zhang W, Sehmi J, et al., 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma, NATURE GENETICS, Vol: 43, Pages: 1131-1138, ISSN: 1061-4036
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- Citations: 409
Loss G, Apprich S, Waser M, et al., 2011, The protective effect of farm milk consumption on childhood asthma and atopy: the GABRIELA study., J Allergy Clin Immunol, Vol: 128, Pages: 766-773.e4
BACKGROUND: Farm milk consumption has been identified as an exposure that might contribute to the protective effect of farm life on childhood asthma and allergies. The mechanism of action and the role of particular constituents of farm milk, however, are not yet clear. OBJECTIVE: We sought to investigate the farm milk effect and determine responsible milk constituents. METHODS: In rural regions of Germany, Austria, and Switzerland, a comprehensive questionnaire about farm milk consumption and other farm-related exposures was completed by parents of 8334 school-aged children, and 7606 of them provided serum samples to assess specific IgE levels. In 800 cow's milk samples collected at the participants' homes, viable bacterial counts, whey protein levels, and total fat content were analyzed. Asthma, atopy, and hay fever were associated to reported milk consumption and for the first time to objectively measured milk constituents by using multiple regression analyses. RESULTS: Reported raw milk consumption was inversely associated to asthma (adjusted odds ratio [aOR], 0.59; 95% CI, 0.46-0.74), atopy (aOR, 0.74; 95% CI, 0.61-0.90), and hay fever (aOR, 0.51; 95% CI, 0.37-0.69) independent of other farm exposures. Boiled farm milk did not show a protective effect. Total viable bacterial counts and total fat content of milk were not significantly related to asthma or atopy. Increased levels of the whey proteins BSA (aOR for highest vs lowest levels and asthma, 0.53; 95% CI, 0.30-0.97), α-lactalbumin (aOR for interquartile range and asthma, 0.71; 95% CI, 0.52-0.97), and β-lactoglobulin (aOR for interquartile range and asthma, 0.62; 95% CI, 0.39-0.97), however, were inversely associated with asthma but not with atopy. CONCLUSIONS: The findings suggest that the protective effect of raw milk consumption on asthma might be associated with the whey protein fraction of milk.
Danecek P, Auton A, Abecasis G, et al., 2011, The variant call format and VCFtools, BIOINFORMATICS, Vol: 27, Pages: 2156-2158, ISSN: 1367-4803
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- Citations: 3887
Cookson W, Moffatt M, Strachan DP, 2011, Genetic risks and childhood-onset asthma, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Vol: 128, Pages: 266-272, ISSN: 0091-6749
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- Citations: 27
Stewart C, Kural D, Stroemberg MP, et al., 2011, A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans, PLOS GENETICS, Vol: 7, ISSN: 1553-7404
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- Citations: 209
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