Institution
University of Milan
Education•Milan, Italy•
About: University of Milan is a education organization based out in Milan, Italy. It is known for research contribution in the topics: Population & Transplantation. The organization has 58413 authors who have published 139784 publications receiving 4636354 citations. The organization is also known as: Università degli Studi di Milano & Statale.
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TL;DR: It is shown that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait, and indicates that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
Abstract: Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
1,768 citations
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1,760 citations
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TL;DR: In this paper, a power-law fit to the angular power spectra of dust polarization at 353 GHz for six nested sky regions covering from 24 to 71 % of the sky is presented.
Abstract: The study of polarized dust emission has become entwined with the analysis of the cosmic microwave background (CMB) polarization. We use new Planck maps to characterize Galactic dust emission as a foreground to the CMB polarization. We present Planck EE, BB, and TE power spectra of dust polarization at 353 GHz for six nested sky regions covering from 24 to 71 % of the sky. We present power-law fits to the angular power spectra, yielding evidence for statistically significant variations of the exponents over sky regions and a difference between the values for the EE and BB spectra. The TE correlation and E/B power asymmetry extend to low multipoles that were not included in earlier Planck polarization papers. We also report evidence for a positive TB dust signal. Combining data from Planck and WMAP, we determine the amplitudes and spectral energy distributions (SEDs) of polarized foregrounds, including the correlation between dust and synchrotron polarized emission, for the six sky regions as a function of multipole. This quantifies the challenge of the component separation procedure required for detecting the reionization and recombination peaks of primordial CMB B modes. The SED of polarized dust emission is fit well by a single-temperature modified blackbody emission law from 353 GHz to below 70 GHz. For a dust temperature of 19.6 K, the mean spectral index for dust polarization is $\beta_{\rm d}^{P} = 1.53\pm0.02 $. By fitting multi-frequency cross-spectra, we examine the correlation of the dust polarization maps across frequency. We find no evidence for decorrelation. If the Planck limit for the largest sky region applies to the smaller sky regions observed by sub-orbital experiments, then decorrelation might not be a problem for CMB experiments aiming at a primordial B-mode detection limit on the tensor-to-scalar ratio $r\simeq0.01$ at the recombination peak.
1,749 citations
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University of Freiburg1, University of Alberta2, University of Milan3, Western General Hospital4, Medical University of Vienna5, Bond University6, Norwegian University of Science and Technology7, Beatson West of Scotland Cancer Centre8, Karlstad University9, Sapienza University of Rome10, University of Basel11, University of Lisbon12, University of St. Gallen13, HAN University of Applied Sciences14, Université libre de Bruxelles15
TL;DR: These evidence-based guidelines were developed to translate current best evidence and expert opinion into recommendations for multi-disciplinary teams responsible for identification, prevention, and treatment of reversible elements of malnutrition in adult cancer patients.
1,740 citations
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TL;DR: The European Space Agency's Planck satellite, dedicated to studying the early Universe and its subsequent evolution, was launched 14 May 2009 and has been scanning the microwave and submillimetre sky continuously since 12 August 2009 as discussed by the authors.
Abstract: The European Space Agency’s Planck satellite, dedicated to studying the early Universe and its subsequent evolution, was launched 14 May 2009 and has been scanning the microwave and submillimetre sky continuously since 12 August 2009. In March 2013, ESA and the Planck Collaboration released the initial cosmology products based on the first 15.5 months of Planck data, along with a set of scientific and technical papers and a web-based explanatory supplement. This paper gives an overview of the mission and its performance, the processing, analysis, and characteristics of the data, the scientific results, and the science data products and papers in the release. The science products include maps of the cosmic microwave background (CMB) and diffuse extragalactic foregrounds, a catalogue of compact Galactic and extragalactic sources, and a list of sources detected through the Sunyaev-Zeldovich effect. The likelihood code used to assess cosmological models against the Planck data and a lensing likelihood are described. Scientific results include robust support for the standard six-parameter ΛCDM model of cosmology and improved measurements of its parameters, including a highly significant deviation from scale invariance of the primordial power spectrum. The Planck values for these parameters and others derived from them are significantly different from those previously determined. Several large-scale anomalies in the temperature distribution of the CMB, first detected by WMAP, are confirmed with higher confidence. Planck sets new limits on the number and mass of neutrinos, and has measured gravitational lensing of CMB anisotropies at greater than 25σ. Planck finds no evidence for non-Gaussianity in the CMB. Planck’s results agree well with results from the measurements of baryon acoustic oscillations. Planck finds a lower Hubble constant than found in some more local measures. Some tension is also present between the amplitude of matter fluctuations (σ8) derived from CMB data and that derived from Sunyaev-Zeldovich data. The Planck and WMAP power spectra are offset from each other by an average level of about 2% around the first acoustic peak. Analysis of Planck polarization data is not yet mature, therefore polarization results are not released, although the robust detection of E-mode polarization around CMB hot and cold spots is shown graphically.
1,719 citations
Authors
Showing all 58902 results
Name | H-index | Papers | Citations |
---|---|---|---|
Yi Cui | 220 | 1015 | 199725 |
Peter J. Barnes | 194 | 1530 | 166618 |
Thomas C. Südhof | 191 | 653 | 118007 |
Charles A. Dinarello | 190 | 1058 | 139668 |
Alberto Mantovani | 183 | 1397 | 163826 |
John J.V. McMurray | 178 | 1389 | 184502 |
Giuseppe Remuzzi | 172 | 1226 | 160440 |
Russel J. Reiter | 169 | 1646 | 121010 |
Jean Louis Vincent | 161 | 1667 | 163721 |
Tobin J. Marks | 159 | 1621 | 111604 |
Tomas Hökfelt | 158 | 1033 | 95979 |
José Baselga | 156 | 707 | 122498 |
Naveed Sattar | 155 | 1326 | 116368 |
Silvia Franceschi | 155 | 1340 | 112504 |
Frederik Barkhof | 154 | 1449 | 104982 |