ALBERT

Beschreibung: Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.

Beschreibung: An annotated reference sequence representing the hexaploid bread wheat genome in 21 pseudomolecules has been analyzed to identify the distribution and genomic context of coding and noncoding elements across the A, B, and D subgenomes. With an estimated coverage of 94% of the genome and containing 107,891 high-confidence gene models, this assembly enabled the discovery of tissue- and developmental stage–related coexpression networks by providing a transcriptome atlas representing major stages of wheat development. Dynamics of complex gene families involved in environmental adaptation and end-use quality were revealed at subgenome resolution and contextualized to known agronomic single-gene or quantitative trait loci. This community resource establishes the foundation for accelerating wheat research and application through improved understanding of wheat biology and genomics-assisted breeding.

Beschreibung: The Pluto system was recently explored by NASA's New Horizons spacecraft, making closest approach on 14 July 2015. Pluto's surface displays diverse landforms, terrain ages, albedos, colors, and composition gradients. Evidence is found for a water-ice crust, geologically young surface units, surface ice convection, wind streaks, volatile transport, and glacial flow. Pluto's atmosphere is highly extended, with trace hydrocarbons, a global haze layer, and a surface pressure near 10 microbars. Pluto's diverse surface geology and long-term activity raise fundamental questions about how small planets remain active many billions of years after formation. Pluto's large moon Charon displays tectonics and evidence for a heterogeneous crustal composition; its north pole displays puzzling dark terrain. Small satellites Hydra and Nix have higher albedos than expected.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stern, S A -- Bagenal, F -- Ennico, K -- Gladstone, G R -- Grundy, W M -- McKinnon, W B -- Moore, J M -- Olkin, C B -- Spencer, J R -- Weaver, H A -- Young, L A -- Andert, T -- Andrews, J -- Banks, M -- Bauer, B -- Bauman, J -- Barnouin, O S -- Bedini, P -- Beisser, K -- Beyer, R A -- Bhaskaran, S -- Binzel, R P -- Birath, E -- Bird, M -- Bogan, D J -- Bowman, A -- Bray, V J -- Brozovic, M -- Bryan, C -- Buckley, M R -- Buie, M W -- Buratti, B J -- Bushman, S S -- Calloway, A -- Carcich, B -- Cheng, A F -- Conard, S -- Conrad, C A -- Cook, J C -- Cruikshank, D P -- Custodio, O S -- Dalle Ore, C M -- Deboy, C -- Dischner, Z J B -- Dumont, P -- Earle, A M -- Elliott, H A -- Ercol, J -- Ernst, C M -- Finley, T -- Flanigan, S H -- Fountain, G -- Freeze, M J -- Greathouse, T -- Green, J L -- Guo, Y -- Hahn, M -- Hamilton, D P -- Hamilton, S A -- Hanley, J -- Harch, A -- Hart, H M -- Hersman, C B -- Hill, A -- Hill, M E -- Hinson, D P -- Holdridge, M E -- Horanyi, M -- Howard, A D -- Howett, C J A -- Jackman, C -- Jacobson, R A -- Jennings, D E -- Kammer, J A -- Kang, H K -- Kaufmann, D E -- Kollmann, P -- Krimigis, S M -- Kusnierkiewicz, D -- Lauer, T R -- Lee, J E -- Lindstrom, K L -- Linscott, I R -- Lisse, C M -- Lunsford, A W -- Mallder, V A -- Martin, N -- McComas, D J -- McNutt, R L Jr -- Mehoke, D -- Mehoke, T -- Melin, E D -- Mutchler, M -- Nelson, D -- Nimmo, F -- Nunez, J I -- Ocampo, A -- Owen, W M -- Paetzold, M -- Page, B -- Parker, A H -- Parker, J W -- Pelletier, F -- Peterson, J -- Pinkine, N -- Piquette, M -- Porter, S B -- Protopapa, S -- Redfern, J -- Reitsema, H J -- Reuter, D C -- Roberts, J H -- Robbins, S J -- Rogers, G -- Rose, D -- Runyon, K -- Retherford, K D -- Ryschkewitsch, M G -- Schenk, P -- Schindhelm, E -- Sepan, B -- Showalter, M R -- Singer, K N -- Soluri, M -- Stanbridge, D -- Steffl, A J -- Strobel, D F -- Stryk, T -- Summers, M E -- Szalay, J R -- Tapley, M -- Taylor, A -- Taylor, H -- Throop, H B -- Tsang, C C C -- Tyler, G L -- Umurhan, O M -- Verbiscer, A J -- Versteeg, M H -- Vincent, M -- Webbert, R -- Weidner, S -- Weigle, G E 2nd -- White, O L -- Whittenburg, K -- Williams, B G -- Williams, K -- Williams, S -- Woods, W W -- Zangari, A M -- Zirnstein, E -- New York, N.Y. -- Science. 2015 Oct 16;350(6258):aad1815. doi: 10.1126/science.aad1815.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Southwest Research Institute, Boulder, CO 80302, USA. astern@boulder.swri.edu. ; Laboratory for Atmospheric and Space Physics, University of Colorado, Boulder, CO 80303, USA. ; National Aeronautics and Space Administration (NASA) Ames Research Center, Space Science Division, Moffett Field, CA 94035, USA. ; Southwest Research Institute, San Antonio, TX 28510, USA. ; Lowell Observatory, Flagstaff, AZ 86001, USA. ; Department of Earth and Planetary Sciences, Washington University, St. Louis, MO 63130, USA. ; Southwest Research Institute, Boulder, CO 80302, USA. ; Johns Hopkins University Applied Physics Laboratory, Laurel, MD 20723, USA. ; Universitat der Bundeswehr Munchen, Neubiberg 85577, Germany. ; Planetary Science Institute, Tucson, AZ 85719, USA. ; KinetX Aerospace, Tempe, AZ 85284, USA. ; NASA Jet Propulsion Laboratory, La Canada Flintridge, CA 91011, USA. ; Massachusetts Institute of Technology, Cambridge, MA 02139, USA. ; University of Bonn, Bonn D-53113, Germany. ; NASA Headquarters (retired), Washington, DC 20546, USA. ; University of Arizona, Tucson, AZ 85721, USA. ; Cornell University, Ithaca, NY 14853, USA. ; NASA Headquarters, Washington, DC 20546, USA. ; Rheinisches Institut fur Umweltforschung an der Universitat zu Koln, Cologne 50931, Germany. ; Department of Astronomy, University of Maryland, College Park, MD 20742, USA. ; Search for Extraterrestrial Intelligence Institute, Mountain View, CA 94043, USA. ; Department of Environmental Sciences, University of Virginia, Charlottesville, VA 22904, USA. ; NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA. ; National Optical Astronomy Observatory, Tucson, AZ 26732, USA. ; NASA Marshall Space Flight Center, Huntsville, AL 35812, USA. ; Stanford University, Stanford, CA 94305, USA. ; Space Telescope Science Institute, Baltimore, MD 21218, USA. ; University of California, Santa Cruz, CA 95064, USA. ; Lunar and Planetary Institute, Houston, TX 77058, USA. ; Michael Soluri Photography, New York, NY 10014, USA. ; Johns Hopkins University, Baltimore, MD 21218, USA. ; Roane State Community College, Jamestown, TN 38556, USA. ; George Mason University, Fairfax, VA 22030, USA. ; Department of Astronomy, University of Virginia, Charlottesville, VA 22904, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26472913" target="_blank"〉PubMed〈/a〉

Beschreibung: We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 600 controls of European ancestry ascertained from 52 studies and a further 5795 cases and 6624 controls of Asian ancestry from nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88–0.92]; P -value = 1.58 x 10 –25 ). This SNP is one of a cluster of highly correlated variants, including rs865686, that spans ~14.5 kb. We identified two additional independent association signals demarcated by SNPs rs10816625 (OR = 1.12 [1.08–1.17]; P -value = 7.89 x 10 –09 ) and rs13294895 (OR = 1.09 [1.06–1.12]; P -value = 2.97 x 10 –11 ). SNP rs10816625, but not rs13294895, was also associated with risk of breast cancer in Asian individuals (OR = 1.12 [1.06–1.18]; P -value = 2.77 x 10 –05 ). Functional genomic annotation using data derived from breast cancer cell-line models indicates that these SNPs localise to putative enhancer elements that bind known drivers of hormone-dependent breast cancer, including ER-α, FOXA1 and GATA-3. In vitro analyses indicate that rs10816625 and rs13294895 have allele-specific effects on enhancer activity and suggest chromatin interactions with the KLF4 gene locus. These results demonstrate the power of dense genotyping in large studies to identify independent susceptibility variants. Analysis of associations using subjects with different ancestry, combined with bioinformatic and genomic characterisation, can provide strong evidence for the likely causative alleles and their functional basis.

Beschreibung: The BioMart Community Portal ( www.biomart.org ) is a community-driven effort to provide a unified interface to biomedical databases that are distributed worldwide. The portal provides access to numerous database projects supported by 30 scientific organizations. It includes over 800 different biological datasets spanning genomics, proteomics, model organisms, cancer data, ontology information and more. All resources available through the portal are independently administered and funded by their host organizations. The BioMart data federation technology provides a unified interface to all the available data. The latest version of the portal comes with many new databases that have been created by our ever-growing community. It also comes with better support and extensibility for data analysis and visualization tools. A new addition to our toolbox, the enrichment analysis tool is now accessible through graphical and web service interface. The BioMart community portal averages over one million requests per day. Building on this level of service and the wealth of information that has become available, the BioMart Community Portal has introduced a new, more scalable and cheaper alternative to the large data stores maintained by specialized organizations.

Beschreibung: The Gorkha earthquake (magnitude 7.8) on 25 April 2015 and later aftershocks struck South Asia, killing ~9000 people and damaging a large region. Supported by a large campaign of responsive satellite data acquisitions over the earthquake disaster zone, our team undertook a satellite image survey of the earthquakes' induced geohazards in Nepal and China and an assessment of the geomorphic, tectonic, and lithologic controls on quake-induced landslides. Timely analysis and communication aided response and recovery and informed decision-makers. We mapped 4312 coseismic and postseismic landslides. We also surveyed 491 glacier lakes for earthquake damage but found only nine landslide-impacted lakes and no visible satellite evidence of outbursts. Landslide densities correlate with slope, peak ground acceleration, surface downdrop, and specific metamorphic lithologies and large plutonic intrusions.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kargel, J S -- Leonard, G J -- Shugar, D H -- Haritashya, U K -- Bevington, A -- Fielding, E J -- Fujita, K -- Geertsema, M -- Miles, E S -- Steiner, J -- Anderson, E -- Bajracharya, S -- Bawden, G W -- Breashears, D F -- Byers, A -- Collins, B -- Dhital, M R -- Donnellan, A -- Evans, T L -- Geai, M L -- Glasscoe, M T -- Green, D -- Gurung, D R -- Heijenk, R -- Hilborn, A -- Hudnut, K -- Huyck, C -- Immerzeel, W W -- Liming, Jiang -- Jibson, R -- Kaab, A -- Khanal, N R -- Kirschbaum, D -- Kraaijenbrink, P D A -- Lamsal, D -- Shiyin, Liu -- Mingyang, Lv -- McKinney, D -- Nahirnick, N K -- Zhuotong, Nan -- Ojha, S -- Olsenholler, J -- Painter, T H -- Pleasants, M -- Pratima, K C -- Yuan, Q I -- Raup, B H -- Regmi, D -- Rounce, D R -- Sakai, A -- Donghui, Shangguan -- Shea, J M -- Shrestha, A B -- Shukla, A -- Stumm, D -- van der Kooij, M -- Voss, K -- Xin, Wang -- Weihs, B -- Wolfe, D -- Lizong, Wu -- Xiaojun, Yao -- Yoder, M R -- Young, N -- New York, N.Y. -- Science. 2016 Jan 8;351(6269):aac8353. doi: 10.1126/science.aac8353. Epub 2015 Dec 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Hydrology and Water Resources, University of Arizona, Tucson, AZ, USA. kargel@hwr.arizona.edu dshugar@uw.edu uharitashya1@udayton.edu. ; Department of Hydrology and Water Resources, University of Arizona, Tucson, AZ, USA. ; School of Interdisciplinary Arts and Sciences, University of Washington Tacoma, Tacoma, WA, USA. kargel@hwr.arizona.edu dshugar@uw.edu uharitashya1@udayton.edu. ; Department of Geology, University of Dayton, Dayton, OH, USA. kargel@hwr.arizona.edu dshugar@uw.edu uharitashya1@udayton.edu. ; Ministry of Forests, Lands and Natural Resource Operations, Prince George, BC, Canada. ; Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA, USA. ; Graduate School of Environmental Studies, Nagoya University, Nagoya, Japan. ; Scott Polar Research Institute, University of Cambridge, Cambridge, UK. ; Institute of Environmental Engineering, Federal Institute of Technology-ETH, Zurich, Switzerland. ; NASA Marshall Space Flight Center, Huntsville, AL, USA. ; International Centre for Integrated Mountain Development, Kathmandu, Nepal. ; NASA Headquarters, Washington, DC, USA. ; GlacierWorks, Marblehead, MA, USA. ; The Mountain Institute, Elkins, WV, USA. ; U.S. Geological Survey, Menlo Park, CA, USA. ; Central Department of Geology, Tribhuvan University, Kirtipur, Kathmandu, Nepal. ; Department of Geography, University of Victoria, Victoria, BC, Canada. ; CVA Engineering, Suresnes, France. ; Earthquake Science Center, U.S. Geological Survey, Pasadena, CA, USA. ; ImageCat, Long Beach, CA, USA. ; Faculty of Geosciences, Utrecht University, Utrecht, Netherlands. ; State Key Laboratory of Geodesy and Earth's Dynamics, Institute of Geodesy and Geophysics, Chinese Academy of Sciences, Wuhan, Hubei Province, China. ; U.S. Geological Survey, Golden, CO, USA. ; Department of Geosciences, University of Oslo, Blindern, Oslo, Norway. ; Hydrological Sciences Laboratory, NASA Goddard Space Flight Center, Greenbelt, MD, USA. ; Cold and Arid Regions of Environmental and Engineering Research Institute, Chinese Academy of Sciences, Lanzhou, China. ; School of Earth Sciences and Engineering, Nanjing University, Nanjing, China. ; Department of Civil, Architectural and Environmental Engineering, University of Texas at Austin, Austin, TX, USA. ; School of Geography Science, Nanjing Normal University, Nanjing, China. ; Department of Geography, Texas A&M University, College Station, TX, USA. ; Department of Geology, University of Dayton, Dayton, OH, USA. ; Arizona Remote Sensing Center, School of Natural Resources and the Environment, University of Arizona, Tucson, AZ, USA. ; National Snow and Ice Data Center, University of Colorado, Boulder, CO, USA. ; Himalayan Research Center, Kathmandu, Nepal. ; Environmental and Water Resources Engineering, University of Texas at Austin, Austin, TX, USA. ; Wadia Institute of Himalayan Geology, Dehradun, India. ; MacDonald Dettwiler and Associates-GSI, Ottawa, Ontario, Canada. ; Department of Geography, University of California, Santa Barbara, Santa Barbara, CA, USA. ; College of Architecture and Urban Planning, Hunan University of Science and Technology, Xiangtan, China. ; Geography Department, Kansas State University, Manhattan, KS, USA. ; Global Land Ice Measurements from Space (GLIMS) Steward, Alaska Region, Anchorage, AK, USA. ; College of Geographical Science and Environment, Northwest Normal University, China. ; Department of Physics, University of California, Davis, Davis, CA, USA. ; Antarctic Climate and Ecosystems Cooperative Research Centre, University of Tasmania, Hobart, TAS, Australia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26676355" target="_blank"〉PubMed〈/a〉