@article{VanHoutTachmazidouBackmanetal.2020,
  author    = {Van Hout, Cristopher V. and Tachmazidou, Ioanna and Backman, Joshua D. and Hoffman, Joshua D. and Liu, Daren and Pandey, Ashutosh K. and Gonzaga-Jauregui, Claudia and Khalid, Shareef and Ye, Bin and Banerjee, Nilanjana and Li, Alexander H. and O'Dushlaine, Colm and Marcketta, Anthony and Staples, Jeffrey and Schurmann, Claudia and Hawes, Alicia and Maxwell, Evan and Barnard, Leland and Lopez, Alexander and Penn, John and Habegger, Lukas and Blumenfeld, Andrew L. and Bai, Xiaodong and O'Keeffe, Sean and Yadav, Ashish and Praveen, Kavita and Jones, Marcus and Salerno, William J. and Chung, Wendy K. and Surakka, Ida and Willer, Cristen J. and Hveem, Kristian and Leader, Joseph B. and Carey, David J. and Ledbetter, David H. and Cardon, Lon and Yancopoulos, George D. and Economides, Aris and Coppola, Giovanni and Shuldiner, Alan R. and Balasubramanian, Suganthi and Cantor, Michael and Nelson, Matthew R. and Whittaker, John and Reid, Jeffrey G. and Marchini, Jonathan and Overton, John D. and Scott, Robert A. and Abecasis, Goncalo R. and Yerges-Armstrong, Laura M. and Baras, Aris},
  title     = {Exome sequencing and characterization of 49,960 individuals in the UK Biobank},
  series = {Nature : the international weekly journal of science},
  volume    = {586},
  journal   = {Nature : the international weekly journal of science},
  number    = {7831},
  publisher = {Macmillan Publishers Limited},
  address   = {London},
  organization    = {Regeneron Genetics Ctr},
  issn      = {0028-0836},
  doi       = {10.1038/s41586-020-2853-0},
  pages     = {749 -- 756},
  year      = {2020},
  abstract  = {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. <br /> 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.},
  language  = {en}
}
@article{MagenheimReinhardtKundischetal.2013,
  author    = {Magenheim, Johannes and Reinhardt, Wolfgang and Kundisch, Dennis and Herrmann, Philipp and Whittaker, Michael and Beutner, Marc and Zoyke, Andrea},
  title     = {Einsatz mobiler Endger{\"a}te zur Verbesserung der Lehrqualit{\"a}t in universit{\"a}ren Großveranstaltungen},
  series = {E-Learning Symposium 2012 : Aktuelle Anwendungen, innovative Prozesse und neueste Ergebnisse aus der E-Learning-Praxis ; Potsdam, 17. November 2012},
  journal   = {E-Learning Symposium 2012 : Aktuelle Anwendungen, innovative Prozesse und neueste Ergebnisse aus der E-Learning-Praxis ; Potsdam, 17. November 2012},
  publisher = {Universit{\"a}tsverlag Potsdam},
  address   = {Potsdam},
  doi       = {10.25932/publishup-44210},
  url       = {http://nbn-resolving.de/urn:nbn:de:kobv:517-opus4-442109},
  pages     = {15 -- 26},
  year      = {2013},
  abstract  = {Im vorliegenden Beitrag wird gezeigt, wie mit Hilfe mobiler Endger{\"a}te von Studierenden und einer geeigneten technischen Infrastruktur auch in sehr großen Lehrveranstaltungen mit mehreren hundert Studierenden Lerneraktivierende, kooperative Lernprozesse initiiert werden k{\"o}nnen. Der Artikel stellt das bereits etablierte methodisch-didaktische Konzept der ‚Peer Instruction' (PI) vor, referiert Erkenntnisse zu dessen Lernwirksamkeit und weist auf dessen Einsatzm{\"o}glichkeiten in Informatik- und wirtschaftswissenschaftlichen Veranstaltungen hin. Die Architektur sowie die Funktionalit{\"a}t der webbasierten Clients von Studierenden und Dozenten werden er{\"o}rtert. Erste Evaluationsergebnisse zum Praxiseinsatz dieses Konzepts mit der an der Universit{\"a}t Paderborn entwickelten technischen Infrastruktur werden beschrieben und Perspektiven der Weiterentwicklung des Systems vorgestellt.},
  language  = {de}
}