Institution
University of Cambridge
Education•Cambridge, United Kingdom•
About: University of Cambridge is a education organization based out in Cambridge, United Kingdom. It is known for research contribution in the topics: Population & Galaxy. The organization has 118293 authors who have published 282289 publications receiving 14497093 citations. The organization is also known as: Cambridge University & Cambridge.
Topics: Population, Galaxy, Transplantation, Redshift, Gene
Papers published on a yearly basis
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TL;DR: This paper considers the advantages and disadvantages associated with the use of vignettes as data collection tools, concluding with a check-list to help critique vignette studies.
Abstract: Vignettes are simulations of real events which can be used in research studies to elicit subject's knowledge, attitudes or opinions according to how they state they would behave in the hypothetical situation depicted Advantages associated with the use of vignettes as research tools include: the ability to collect information simultaneously from large numbers of subjects, to manipulate a number of variables at once in a manner that would not be possible in observation studies, absence of observer effect and avoidance of the ethical dilemmas commonly encountered during observation Difficulties include problems establishing reliability and validity, especially external validity This paper considers the advantages and disadvantages associated with the use of vignettes as data collection tools, concluding with a check-list to help critique vignettes studies
267 citations
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Boston University1, University of Edinburgh2, University of Queensland3, Science for Life Laboratory4, King's College London5, Wake Forest University6, Icahn School of Medicine at Mount Sinai7, University of North Carolina at Chapel Hill8, Erasmus University Rotterdam9, National Institutes of Health10, University of Cambridge11, University of Alabama at Birmingham12, University of Washington13, University of Düsseldorf14, Emory University15, University of Texas Health Science Center at Houston16, Harvard University17, University of Minnesota18, Technische Universität München19, Ludwig Maximilian University of Munich20, UCLA Medical Center21, Max Planck Society22, McLean Hospital23, VA Boston Healthcare System24, Uppsala University25, University of Kentucky26, Columbia University27
TL;DR: An epigenome-wide association study of methylation of cytosine-phosphate-guanine dinucleotide (CpG) sites in relation to alcohol intake identified a robust alcohol-related DNA methylation signature and shown the potential utility ofDNA methylation as a clinically useful diagnostic test to detect current heavy alcohol consumption.
Abstract: The lack of reliable measures of alcohol intake is a major obstacle to the diagnosis and treatment of alcohol-related diseases. Epigenetic modifications such as DNA methylation may provide novel biomarkers of alcohol use. To examine this possibility, we performed an epigenome-wide association study of methylation of cytosine-phosphate-guanine dinucleotide (CpG) sites in relation to alcohol intake in 13 population-based cohorts (ntotal=13 317; 54% women; mean age across cohorts 42-76 years) using whole blood (9643 European and 2423 African ancestries) or monocyte-derived DNA (588 European, 263 African and 400 Hispanic ancestry) samples. We performed meta-analysis and variable selection in whole-blood samples of people of European ancestry (n=6926) and identified 144 CpGs that provided substantial discrimination (area under the curve=0.90-0.99) for current heavy alcohol intake (⩾42 g per day in men and ⩾28 g per day in women) in four replication cohorts. The ancestry-stratified meta-analysis in whole blood identified 328 (9643 European ancestry samples) and 165 (2423 African ancestry samples) alcohol-related CpGs at Bonferroni-adjusted P<1 × 10-7. Analysis of the monocyte-derived DNA (n=1251) identified 62 alcohol-related CpGs at P<1 × 10-7. In whole-blood samples of people of European ancestry, we detected differential methylation in two neurotransmitter receptor genes, the γ-Aminobutyric acid-A receptor delta and γ-aminobutyric acid B receptor subunit 1; their differential methylation was associated with expression levels of a number of genes involved in immune function. In conclusion, we have identified a robust alcohol-related DNA methylation signature and shown the potential utility of DNA methylation as a clinically useful diagnostic test to detect current heavy alcohol consumption.
267 citations
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University of Cambridge1, NHS Blood and Transplant2, British Heart Foundation3, Katholieke Universiteit Leuven4, University of Edinburgh5, Imperial College London6, John Radcliffe Hospital7, University of Oxford8, Queen Mary University of London9, King's College London10, University College London11, Guy's and St Thomas' NHS Foundation Trust12, Imperial College Healthcare13, European Bioinformatics Institute14, University of Bristol15, University Hospitals Bristol NHS Foundation Trust16, UCL Institute of Child Health17, Moorfields Eye Hospital18, Illumina19
TL;DR: This study used whole-genome sequencing in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome, finding that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells.
Abstract: Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
267 citations
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TL;DR: In this paper, the distribution of stress and velocity in an ideal glacier and an ideal ice-sheet is calculated for the two-dimensional flow of a long slab of ice down a gently undulating rough slope.
Abstract: A calculation is made of the distribution of stress and velocity in an ideal glacier and in an ideal ice-sheet. The ice is assumed to have a constant yield stress and to obey, like other polycrystalline plastic aggregates, the Levy-Mises equations of flow and either the Mises or the Tresca criterion of yielding. The solution obtained for an ideal glacier represents the two-dimensional flow of a long slab of ice down a gently undulating rough slope. The addition of ice to the upper surface by snowfall and the removal of ice by ablation are allowed for, but the frictional resistance of the sides of the glacier valley is neglected. Two states of flow are possible, 'active' and 'passive', corresponding to the active and passive Rankine states in soil mechanics. Which of these states occurs at a given place depends upon the relative magnitudes of the curvature of the bed and the rate of snowfall or ablation; a simple algebraic expression of this dependence is obtained. In both states of flow the velocity is greatest at the surface and decreases with depth according to an elliptical law. It is shown that, in accordance with observation, crevasses of limited depth can open in active flow but not in passive flow. The slip-line field for the problem has a close connexion with the directions and positions of shear faults (although the laminated structure of a glacier is doubtless also an important factor here). In passive flow the faults to be expected are similar to the 'thrust planes' often seen on glaciers. The theory suggests that in active flow a complementary sort of shear fault with the opposite direction of movement may occur-and there is some observational evidence for this. The tendency of glaciers to accentuate hollows in their beds is connected with the suggestion that erosion should proceed faster under passive flow than under active flow. The second solution obtained is formally similar but represents the two-dimensional flow of a large ice-sheet, such as the Greenland ice-cap. If a horizontal bed is assumed the profile is calculated to be formed from parts of two parabolas, the maximum height being given by the yield stress of ice. In the accumulation area flow is active. The maximum velocity is everywhere at the surface while the maximum shear rate is on the bed. The solution thus gives no support to the belief that the weight of ice above squeezes out the underlying ice at a faster rate.
267 citations
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TL;DR: In this paper, a simple model was proposed which qualitatively accounts for all observed notch phenomena including non-propagating cracks and size effects, and quantitatively predicts the experimental fatigue failure limit of sharply notched specimens.
267 citations
Authors
Showing all 119522 results
Name | H-index | Papers | Citations |
---|---|---|---|
Albert Hofman | 267 | 2530 | 321405 |
Zhong Lin Wang | 245 | 2529 | 259003 |
Solomon H. Snyder | 232 | 1222 | 200444 |
Trevor W. Robbins | 231 | 1137 | 164437 |
George Davey Smith | 224 | 2540 | 248373 |
Nicholas J. Wareham | 212 | 1657 | 204896 |
Cyrus Cooper | 204 | 1869 | 206782 |
Eric B. Rimm | 196 | 988 | 147119 |
Martin White | 196 | 2038 | 232387 |
Simon D. M. White | 189 | 795 | 231645 |
Michael Rutter | 188 | 676 | 151592 |
George Efstathiou | 187 | 637 | 156228 |
Mark Hallett | 186 | 1170 | 123741 |
David H. Weinberg | 183 | 700 | 171424 |
Paul G. Richardson | 183 | 1533 | 155912 |