TY - CHAP A1 - Curzon, Paul A1 - Kalas, Ivan A1 - Schubert, Sigrid A1 - Schaper, Niclas A1 - Barnes, Jan A1 - Kennewell, Steve A1 - Bröker, Kathrin A1 - Kastens, Uwe A1 - Magenheim, Johannes A1 - Dagiene, Valentina A1 - Stupuriene, Gabriele A1 - Ellis, Jason Brent A1 - Abreu-Ellis, Carla Reis A1 - Grillenberger, Andreas A1 - Romeike, Ralf A1 - Haugsbakken, Halvdan A1 - Jones, Anthony A1 - Lewin, Cathy A1 - McNicol, Sarah A1 - Nelles, Wolfgang A1 - Neugebauer, Jonas A1 - Ohrndorf, Laura A1 - Schaper, Niclas A1 - Schubert, Sigrid A1 - Opel, Simone A1 - Kramer, Matthias A1 - Trommen, Michael A1 - Pottbäcker, Florian A1 - Ilaghef, Youssef A1 - Passig, David A1 - Tzuriel, David A1 - Kedmi, Ganit Eshel A1 - Saito, Toshinori A1 - Webb, Mary A1 - Weigend, Michael A1 - Bottino, Rosa A1 - Chioccariello, Augusto A1 - Christensen, Rhonda A1 - Knezek, Gerald A1 - Gioko, Anthony Maina A1 - Angondi, Enos Kiforo A1 - Waga, Rosemary A1 - Ohrndorf, Laura A1 - Or-Bach, Rachel A1 - Preston, Christina A1 - Younie, Sarah A1 - Przybylla, Mareen A1 - Romeike, Ralf A1 - Reynolds, Nicholas A1 - Swainston, Andrew A1 - Bendrups, Faye A1 - Sysło, Maciej M. A1 - Kwiatkowska, Anna Beata A1 - Zieris, Holger A1 - Gerstberger, Herbert A1 - Müller, Wolfgang A1 - Büchner, Steffen A1 - Opel, Simone A1 - Schiller, Thomas A1 - Wegner, Christian A1 - Zender, Raphael A1 - Lucke, Ulrike A1 - Diethelm, Ira A1 - Syrbe, Jörn A1 - Lai, Kwok-Wing A1 - Davis, Niki A1 - Eickelmann, Birgit A1 - Erstad, Ola A1 - Fisser, Petra A1 - Gibson, David A1 - Khaddage, Ferial A1 - Knezek, Gerald A1 - Micheuz, Peter A1 - Kloos, Carlos Delgado ED - Brinda, Torsten ED - Reynolds, Nicholas ED - Romeike, Ralf ED - Schwill, Andreas T1 - KEYCIT 2014 BT - key competencies in informatics and ICT N2 - In our rapidly changing world it is increasingly important not only to be an expert in a chosen field of study but also to be able to respond to developments, master new approaches to solving problems, and fulfil changing requirements in the modern world and in the job market. In response to these needs key competencies in understanding, developing and using new digital technologies are being brought into focus in school and university programmes. The IFIP TC3 conference "KEYCIT – Key Competences in Informatics and ICT (KEYCIT 2014)" was held at the University of Potsdam in Germany from July 1st to 4th, 2014 and addressed the combination of key competencies, Informatics and ICT in detail. The conference was organized into strands focusing on secondary education, university education and teacher education (organized by IFIP WGs 3.1 and 3.3) and provided a forum to present and to discuss research, case studies, positions, and national perspectives in this field. T3 - Commentarii informaticae didacticae (CID) - 7 KW - Schlüsselkompetenzen KW - Informatik KW - Bildung KW - ICT KW - Informatikdidaktik KW - Key Competencies KW - Informatics KW - education KW - ICT KW - Computer Science Education Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-70325 SN - 978-3-86956-292-6 PB - Universitätsverlag Potsdam CY - Potsdam ER - TY - JOUR A1 - Van Hout, Cristopher V. A1 - Tachmazidou, Ioanna A1 - Backman, Joshua D. A1 - Hoffman, Joshua D. A1 - Liu, Daren A1 - Pandey, Ashutosh K. A1 - Gonzaga-Jauregui, Claudia A1 - Khalid, Shareef A1 - Ye, Bin A1 - Banerjee, Nilanjana A1 - Li, Alexander H. A1 - O'Dushlaine, Colm A1 - Marcketta, Anthony A1 - Staples, Jeffrey A1 - Schurmann, Claudia A1 - Hawes, Alicia A1 - Maxwell, Evan A1 - Barnard, Leland A1 - Lopez, Alexander A1 - Penn, John A1 - Habegger, Lukas A1 - Blumenfeld, Andrew L. A1 - Bai, Xiaodong A1 - O'Keeffe, Sean A1 - Yadav, Ashish A1 - Praveen, Kavita A1 - Jones, Marcus A1 - Salerno, William J. A1 - Chung, Wendy K. A1 - Surakka, Ida A1 - Willer, Cristen J. A1 - Hveem, Kristian A1 - Leader, Joseph B. A1 - Carey, David J. A1 - Ledbetter, David H. A1 - Cardon, Lon A1 - Yancopoulos, George D. A1 - Economides, Aris A1 - Coppola, Giovanni A1 - Shuldiner, Alan R. A1 - Balasubramanian, Suganthi A1 - Cantor, Michael A1 - Nelson, Matthew R. A1 - Whittaker, John A1 - Reid, Jeffrey G. A1 - Marchini, Jonathan A1 - Overton, John D. A1 - Scott, Robert A. A1 - Abecasis, Goncalo R. A1 - Yerges-Armstrong, Laura M. A1 - Baras, Aris T1 - Exome sequencing and characterization of 49,960 individuals in the UK Biobank JF - Nature : the international weekly journal of science N2 - The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community. KW - clinical exome KW - breast-cancer KW - mutations KW - recommendations KW - gene KW - metaanalysis KW - variants, KW - BRCA1 KW - risk KW - susceptibility Y1 - 2020 U6 - https://doi.org/10.1038/s41586-020-2853-0 SN - 0028-0836 SN - 1476-4687 VL - 586 IS - 7831 SP - 749 EP - 756 PB - Macmillan Publishers Limited CY - London ER - TY - JOUR A1 - Lenz, Josefine A1 - Grosse, Guido A1 - Jones, Benjamin M. A1 - Anthony, Katey M. Walter A1 - Bobrov, Anatoly A1 - Wulf, Sabine A1 - Wetterich, Sebastian T1 - Mid-Wisconsin to Holocene Permafrost and Landscape Dynamics based on a Drained Lake Basin Core from the Northern Seward Peninsula, Northwest Alaska JF - Permafrost and Periglacial Processes N2 - Permafrost-related processes drive regional landscape dynamics in the Arctic terrestrial system. A better understanding of past periods indicative of permafrost degradation and aggradation is important for predicting the future response of Arctic landscapes to climate change. Here, we used a multi-proxy approach to analyse a4m long sediment core from a drained thermokarst lake basin on the northern Seward Peninsula in western Arctic Alaska (USA). Sedimentological, biogeochemical, geochronological, micropalaeontological (ostracoda, testate amoebae) and tephra analyses were used to determine the long-term environmental Early-Wisconsin to Holocene history preserved in our core for central Beringia. Yedoma accumulation dominated throughout the Early to Late-Wisconsin but was interrupted by wetland formation from 44.5 to 41.5ka BP. The latter was terminated by the deposition of 1m of volcanic tephra, most likely originating from the South Killeak Maar eruption at about 42ka BP. Yedoma deposition continued until 22.5ka BP and was followed by a depositional hiatus in the sediment core between 22.5 and 0.23ka BP. We interpret this hiatus as due to intense thermokarst activity in the areas surrounding the site, which served as a sediment source during the Late-Wisconsin to Holocene climate transition. The lake forming the modern basin on the upland initiated around 0.23ka BP and drained catastrophically in spring 2005. The present study emphasises that Arctic lake systems and periglacial landscapes are highly dynamic and that permafrost formation as well as degradation in central Beringia was controlled by regional to global climate patterns as well as by local disturbances. Copyright (c) 2015 John Wiley & Sons, Ltd. KW - Beringia KW - palaeoenvironmental reconstruction KW - thermokarst lake dynamics KW - cryostratigraphy KW - tephra KW - bioindicators KW - yedoma Y1 - 2016 U6 - https://doi.org/10.1002/ppp.1848 SN - 1045-6740 SN - 1099-1530 VL - 27 SP - 56 EP - 75 PB - Wiley-Blackwell CY - Hoboken ER - TY - JOUR A1 - Jones, Anthony T1 - ICT Competencies for School Students JF - KEYCIT 2014 - Key Competencies in Informatics and ICT N2 - This paper discusses results from a small-scale research study, together with some recently published research into student perceptions of ICT for learning in schools, to consider relevant skills that do not appear to currently being taught. The paper concludes by raising three issues relating to learning with and through ICT that need to be addressed in school curricula and classroom teaching. KW - Learning with ICT KW - student perceptions KW - student experience Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-82663 SN - 1868-0844 SN - 2191-1940 IS - 7 SP - 171 EP - 179 PB - Universitätsverlag Potsdam CY - Potsdam ER -