TY - JOUR A1 - Jiang, Yuxiang A1 - Oron, Tal Ronnen A1 - Clark, Wyatt T. A1 - Bankapur, Asma R. A1 - D'Andrea, Daniel A1 - Lepore, Rosalba A1 - Funk, Christopher S. A1 - Kahanda, Indika A1 - Verspoor, Karin M. A1 - Ben-Hur, Asa A1 - Koo, Da Chen Emily A1 - Penfold-Brown, Duncan A1 - Shasha, Dennis A1 - Youngs, Noah A1 - Bonneau, Richard A1 - Lin, Alexandra A1 - Sahraeian, Sayed M. E. A1 - Martelli, Pier Luigi A1 - Profiti, Giuseppe A1 - Casadio, Rita A1 - Cao, Renzhi A1 - Zhong, Zhaolong A1 - Cheng, Jianlin A1 - Altenhoff, Adrian A1 - Skunca, Nives A1 - Dessimoz, Christophe A1 - Dogan, Tunca A1 - Hakala, Kai A1 - Kaewphan, Suwisa A1 - Mehryary, Farrokh A1 - Salakoski, Tapio A1 - Ginter, Filip A1 - Fang, Hai A1 - Smithers, Ben A1 - Oates, Matt A1 - Gough, Julian A1 - Törönen, Petri A1 - Koskinen, Patrik A1 - Holm, Liisa A1 - Chen, Ching-Tai A1 - Hsu, Wen-Lian A1 - Bryson, Kevin A1 - Cozzetto, Domenico A1 - Minneci, Federico A1 - Jones, David T. A1 - Chapman, Samuel A1 - BKC, Dukka A1 - Khan, Ishita K. A1 - Kihara, Daisuke A1 - Ofer, Dan A1 - Rappoport, Nadav A1 - Stern, Amos A1 - Cibrian-Uhalte, Elena A1 - Denny, Paul A1 - Foulger, Rebecca E. A1 - Hieta, Reija A1 - Legge, Duncan A1 - Lovering, Ruth C. A1 - Magrane, Michele A1 - Melidoni, Anna N. A1 - Mutowo-Meullenet, Prudence A1 - Pichler, Klemens A1 - Shypitsyna, Aleksandra A1 - Li, Biao A1 - Zakeri, Pooya A1 - ElShal, Sarah A1 - Tranchevent, Léon-Charles A1 - Das, Sayoni A1 - Dawson, Natalie L. A1 - Lee, David A1 - Lees, Jonathan G. A1 - Sillitoe, Ian A1 - Bhat, Prajwal A1 - Nepusz, Tamás A1 - Romero, Alfonso E. A1 - Sasidharan, Rajkumar A1 - Yang, Haixuan A1 - Paccanaro, Alberto A1 - Gillis, Jesse A1 - Sedeño-Cortés, Adriana E. A1 - Pavlidis, Paul A1 - Feng, Shou A1 - Cejuela, Juan M. A1 - Goldberg, Tatyana A1 - Hamp, Tobias A1 - Richter, Lothar A1 - Salamov, Asaf A1 - Gabaldon, Toni A1 - Marcet-Houben, Marina A1 - Supek, Fran A1 - Gong, Qingtian A1 - Ning, Wei A1 - Zhou, Yuanpeng A1 - Tian, Weidong A1 - Falda, Marco A1 - Fontana, Paolo A1 - Lavezzo, Enrico A1 - Toppo, Stefano A1 - Ferrari, Carlo A1 - Giollo, Manuel A1 - Piovesan, Damiano A1 - Tosatto, Silvio C. E. A1 - del Pozo, Angela A1 - Fernández, José M. A1 - Maietta, Paolo A1 - Valencia, Alfonso A1 - Tress, Michael L. A1 - Benso, Alfredo A1 - Di Carlo, Stefano A1 - Politano, Gianfranco A1 - Savino, Alessandro A1 - Rehman, Hafeez Ur A1 - Re, Matteo A1 - Mesiti, Marco A1 - Valentini, Giorgio A1 - Bargsten, Joachim W. A1 - van Dijk, Aalt D. J. A1 - Gemovic, Branislava A1 - Glisic, Sanja A1 - Perovic, Vladmir A1 - Veljkovic, Veljko A1 - Almeida-e-Silva, Danillo C. A1 - Vencio, Ricardo Z. N. A1 - Sharan, Malvika A1 - Vogel, Jörg A1 - Kansakar, Lakesh A1 - Zhang, Shanshan A1 - Vucetic, Slobodan A1 - Wang, Zheng A1 - Sternberg, Michael J. E. A1 - Wass, Mark N. A1 - Huntley, Rachael P. A1 - Martin, Maria J. A1 - O'Donovan, Claire A1 - Robinson, Peter N. A1 - Moreau, Yves A1 - Tramontano, Anna A1 - Babbitt, Patricia C. A1 - Brenner, Steven E. A1 - Linial, Michal A1 - Orengo, Christine A. A1 - Rost, Burkhard A1 - Greene, Casey S. A1 - Mooney, Sean D. A1 - Friedberg, Iddo A1 - Radivojac, Predrag A1 - Veljkovic, Nevena T1 - An expanded evaluation of protein function prediction methods shows an improvement in accuracy JF - Genome Biology N2 - Background A major bottleneck in our understanding of the molecular underpinnings of life is the assignment of function to proteins. While molecular experiments provide the most reliable annotation of proteins, their relatively low throughput and restricted purview have led to an increasing role for computational function prediction. However, assessing methods for protein function prediction and tracking progress in the field remain challenging. Results We conducted the second critical assessment of functional annotation (CAFA), a timed challenge to assess computational methods that automatically assign protein function. We evaluated 126 methods from 56 research groups for their ability to predict biological functions using Gene Ontology and gene-disease associations using Human Phenotype Ontology on a set of 3681 proteins from 18 species. CAFA2 featured expanded analysis compared with CAFA1, with regards to data set size, variety, and assessment metrics. To review progress in the field, the analysis compared the best methods from CAFA1 to those of CAFA2. Conclusions The top-performing methods in CAFA2 outperformed those from CAFA1. This increased accuracy can be attributed to a combination of the growing number of experimental annotations and improved methods for function prediction. The assessment also revealed that the definition of top-performing algorithms is ontology specific, that different performance metrics can be used to probe the nature of accurate predictions, and the relative diversity of predictions in the biological process and human phenotype ontologies. While there was methodological improvement between CAFA1 and CAFA2, the interpretation of results and usefulness of individual methods remain context-dependent. KW - Protein function prediction KW - Disease gene prioritization Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166293 VL - 17 IS - 184 ER - TY - JOUR A1 - Albert, A. A1 - André, M. A1 - Anghinolfi, M. A1 - Anton, G. A1 - Ardid, M. A1 - Aubert, J.-J. A1 - Aublin, J. A1 - Avgitas, T. A1 - Baret, B. A1 - Barrios-Martít, J. A1 - Basa, S. A1 - Belhorma, B. A1 - Bertin, V. A1 - Biagi, S. A1 - Bormuth, R. A1 - Boumaaza, J A1 - Bourret, S. A1 - Bouwhuis, M. C. A1 - Brânzas, H. A1 - Bruijn, R. A1 - Brunner, J. A1 - Busto, J. A1 - Capone, A. A1 - Caramete, L. A1 - Carr, J. A1 - Celli, S. A1 - Chabab, M. A1 - Cherkaoui El Moursli, R. A1 - Chiarusi, T. A1 - Circella, M. A1 - Coelho, J. A. B. A1 - Coleiro, A. A1 - Colomer, M A1 - Coniglione, R. A1 - Costantini, H. A1 - Coyle, P. A1 - Creusot, A. A1 - Díaz, A. F. A1 - Deschamps, A. A1 - Distefano, C. A1 - Di Palma, I. A1 - Domi, A. A1 - Donzaud, C. A1 - Dornic, D. A1 - Drouhin, D. A1 - Eberl, T. A1 - El Bojaddaini, I. A1 - El Khayati, N. A1 - Elsässer, D. A1 - Enzenhöfer, A. A1 - Ettahiri, A. A1 - Fassi, F. A1 - Felis, I. A1 - Fermani, P. A1 - Ferrara, G. A1 - Fusco, L. A. A1 - Gay, P. A1 - Glotin, H. A1 - Grégoire, T. A1 - Gracia Ruiz, R. A1 - Graf, K. A1 - Hallmann, S. A1 - van Haren, H. A1 - Heijboer, A. J. A1 - Hello, Y. A1 - Hernández-Rey, J. J. A1 - Hößl, J. A1 - Hofestädt, J. A1 - Illuminati, G. A1 - de Jong, M. A1 - Jongen, M. A1 - Kadler, M. A1 - Kalekin, O. A1 - Katz, U. A1 - Khan-Chowdhury, N. R. A1 - Kouchner, A. A1 - Kreter, M. A1 - Kreykenbohm, I. A1 - Kulikovskiy, V. A1 - Lachaud, C. A1 - Lahmann, R. A1 - Lefèvre, D. A1 - Leonora, E. A1 - Levi, G. A1 - Lotze, M. A1 - Loucatos, S. A1 - Marcelin, M. A1 - Margiotta, A. A1 - Marinelli, A. A1 - Martínez-Mora, J. A. A1 - Mele, R. A1 - Melis, K. A1 - Migliozzi, P. A1 - Moussa, A. A1 - Navas, S. A1 - Nezri, E. A1 - Nuñez, A. A1 - Organokov, M. A1 - Pavalas, G. E. A1 - Pellegrino, C. A1 - Piattelli, P. A1 - Popa, V. A1 - Pradier, T. A1 - Quinn, L. A1 - Racca, C. A1 - Randazzo, N. A1 - Riccobene, G. A1 - Sánchez-Losa, A. A1 - Saldaña, M. A1 - Salvadori, I. A1 - Samtleben, D. F. E. A1 - Sanguineti, M. A1 - Sapienza, P. A1 - Schüssler, F. A1 - Spurio, M. A1 - Stolarczyk, Th. A1 - Taiuti, M. A1 - Tayalati, Y. A1 - Trovato, A. A1 - Vallage, B. A1 - Van Elewyck, V. A1 - Versari, F. A1 - Vivolo, D. A1 - Wilms, J. A1 - Zaborov, D. A1 - Zornoza, J. D. A1 - Zúñiga, J. T1 - The cosmic ray shadow of the Moon observed with the ANTARES neutrino telescope JF - European Physical Journal C N2 - One of the main objectives of the ANTARES telescope is the search for point- like neutrino sources. Both the pointing accuracy and the angular resolution of the detector are important in this context and a reliableway to evaluate this performance is needed. In order to measure the pointing accuracy of the detector, one possibility is to study the shadow of the Moon, i. e. the deficit of the atmospheric muon flux from the direction of the Moon induced by the absorption of cosmic rays. Analysing the data taken between 2007 and 2016, theMoon shadow is observed with 3.5s statistical significance. The detector angular resolution for downwardgoing muons is 0.73. +/- 0.14.. The resulting pointing performance is consistent with the expectations. An independent check of the telescope pointing accuracy is realised with the data collected by a shower array detector onboard of a ship temporarily moving around the ANTARES location. KW - Atmospheric muons Y1 - 2019 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-227802 VL - 78 ER - TY - JOUR A1 - Vigorito, Elena A1 - Kuchenbaecker, Karoline B. A1 - Beesley, Jonathan A1 - Adlard, Julian A1 - Agnarsson, Bjarni A. A1 - Andrulis, Irene L. A1 - Arun, Banu K. A1 - Barjhoux, Laure A1 - Belotti, Muriel A1 - Benitez, Javier A1 - Berger, Andreas A1 - Bojesen, Anders A1 - Bonanni, Bernardo A1 - Brewer, Carole A1 - Caldes, Trinidad A1 - Caligo, Maria A. A1 - Campbell, Ian A1 - Chan, Salina B. A1 - Claes, Kathleen B. M. A1 - Cohn, David E. A1 - Cook, Jackie A1 - Daly, Mary B. A1 - Damiola, Francesca A1 - Davidson, Rosemarie A1 - de Pauw, Antoine A1 - Delnatte, Capucine A1 - Diez, Orland A1 - Domchek, Susan M. A1 - Dumont, Martine A1 - Durda, Katarzyna A1 - Dworniczak, Bernd A1 - Easton, Douglas F. A1 - Eccles, Diana A1 - Ardnor, Christina Edwinsdotter A1 - Eeles, Ros A1 - Ejlertsen, Bent A1 - Ellis, Steve A1 - Evans, D. Gareth A1 - Feliubadalo, Lidia A1 - Fostira, Florentia A1 - Foulkes, William D. A1 - Friedman, Eitan A1 - Frost, Debra A1 - Gaddam, Pragna A1 - Ganz, Patricia A. A1 - Garber, Judy A1 - Garcia-Barberan, Vanesa A1 - Gauthier-Villars, Marion A1 - Gehrig, Andrea A1 - Gerdes, Anne-Marie A1 - Giraud, Sophie A1 - Godwin, Andrew K. A1 - Goldgar, David E. A1 - Hake, Christopher R. A1 - Hansen, Thomas V. O. A1 - Healey, Sue A1 - Hodgson, Shirley A1 - Hogervorst, Frans B. L. A1 - Houdayer, Claude A1 - Hulick, Peter J. A1 - Imyanitov, Evgeny N. A1 - Isaacs, Claudine A1 - Izatt, Louise A1 - Izquierdo, Angel A1 - Jacobs, Lauren A1 - Jakubowska, Anna A1 - Janavicius, Ramunas A1 - Jaworska-Bieniek, Katarzyna A1 - Jensen, Uffe Birk A1 - John, Esther M. A1 - Vijai, Joseph A1 - Karlan, Beth Y. A1 - Kast, Karin A1 - Khan, Sofia A1 - Kwong, Ava A1 - Laitman, Yael A1 - Lester, Jenny A1 - Lesueur, Fabienne A1 - Liljegren, Annelie A1 - Lubinski, Jan A1 - Mai, Phuong L. A1 - Manoukian, Siranoush A1 - Mazoyer, Sylvie A1 - Meindl, Alfons A1 - Mensenkamp, Arjen R. A1 - Montagna, Marco A1 - Nathanson, Katherine L. A1 - Neuhausen, Susan L. A1 - Nevanlinna, Heli A1 - Niederacher, Dieter A1 - Olah, Edith A1 - Olopade, Olufunmilayo I. A1 - Ong, Kai-ren A1 - Osorio, Ana A1 - Park, Sue Kyung A1 - Paulsson-Karlsson, Ylva A1 - Pedersen, Inge Sokilde A1 - Peissel, Bernard A1 - Peterlongo, Paolo A1 - Pfeiler, Georg A1 - Phelan, Catherine M. A1 - Piedmonte, Marion A1 - Poppe, Bruce A1 - Pujana, Miquel Angel A1 - Radice, Paolo A1 - Rennert, Gad A1 - Rodriguez, Gustavo C. A1 - Rookus, Matti A. A1 - Ross, Eric A. A1 - Schmutzler, Rita Katharina A1 - Simard, Jacques A1 - Singer, Christian F. A1 - Slavin, Thomas P. A1 - Soucy, Penny A1 - Southey, Melissa A1 - Steinemann, Doris A1 - Stoppa-Lyonnet, Dominique A1 - Sukiennicki, Grzegorz A1 - Sutter, Christian A1 - Szabo, Csilla I. A1 - Tea, Muy-Kheng A1 - Teixeira, Manuel R. A1 - Teo, Soo-Hwang A1 - Terry, Mary Beth A1 - Thomassen, Mads A1 - Tibiletti, Maria Grazia A1 - Tihomirova, Laima A1 - Tognazzo, Silvia A1 - van Rensburg, Elizabeth J. A1 - Varesco, Liliana A1 - Varon-Mateeva, Raymonda A1 - Vratimos, Athanassios A1 - Weitzel, Jeffrey N. A1 - McGuffog, Lesley A1 - Kirk, Judy A1 - Toland, Amanda Ewart A1 - Hamann, Ute A1 - Lindor, Noralane A1 - Ramus, Susan J. A1 - Greene, Mark H. A1 - Couch, Fergus J. A1 - Offit, Kenneth A1 - Pharoah, Paul D. P. A1 - Chenevix-Trench, Georgia A1 - Antoniou, Antonis C. T1 - Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers JF - PLoS ONE N2 - Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population. KW - fine-scale mapping KW - ovarian cancer KW - genetics KW - BRCA1 KW - BRCA2 Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166869 VL - 11 IS - 7 ER - TY - JOUR A1 - Hoppe, K. A1 - Khan, E. A1 - Meybohm, P. A1 - Riese, T. T1 - Mechanical power of ventilation and driving pressure: two undervalued parameters for pre extracorporeal membrane oxygenation ventilation and during daily management? JF - Critical Care N2 - The current ARDS guidelines highly recommend lung protective ventilation which include plateau pressure (Pplat < 30 cm H\(_2\)O), positive end expiratory pressure (PEEP > 5 cm H2O) and tidal volume (Vt of 6 ml/kg) of predicted body weight. In contrast, the ELSO guidelines suggest the evaluation of an indication of veno-venous extracorporeal membrane oxygenation (ECMO) due to hypoxemic or hypercapnic respiratory failure or as bridge to lung transplantation. Finally, these recommendations remain a wide range of scope of interpretation. However, particularly patients with moderate-severe to severe ARDS might benefit from strict adherence to lung protective ventilation strategies. Subsequently, we discuss whether extended physiological ventilation parameter analysis might be relevant for indication of ECMO support and can be implemented during the daily routine evaluation of ARDS patients. Particularly, this viewpoint focus on driving pressure and mechanical power. KW - ARDS KW - ventilation KW - ECMO indication KW - mechanical power KW - driving pressure Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-357181 VL - 27 ER -