Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Susanna Repo"'
Autor:
Chao Zhang, Jochem Bijlard, Christine Staiger, Serena Scollen, David van Enckevort, Youri Hoogstrate, Alexander Senf, Saskia Hiltemann, Susanna Repo, Wibo Pipping, Mariska Bierkens, Stefan Payralbe, Bas Stringer, Jaap Heringa, Andrew Stubbs, Luiz Olavo Bonino Da Silva Santos, Jeroen Belien, Ward Weistra, Rita Azevedo, Kees van Bochove, Gerrit Meijer, Jan-Willem Boiten, Jordi Rambla, Remond Fijneman, J. Dylan Spalding, Sanne Abeln
Publikováno v:
F1000Research, Vol 6 (2017)
The availability of high-throughput molecular profiling techniques has provided more accurate and informative data for regular clinical studies. Nevertheless, complex computational workflows are required to interpret these data. Over the past years,
Externí odkaz:
https://doaj.org/article/8068df77a81040238f5683ddfcc9daad
Autor:
Youri Hoogstrate, Chao Zhang, Alexander Senf, Jochem Bijlard, Saskia Hiltemann, David van Enckevort, Susanna Repo, Jaap Heringa, Guido Jenster, Remond J.A. Fijneman, Jan-Willem Boiten, Gerrit A. Meijer, Andrew Stubbs, Jordi Rambla, Dylan Spalding, Sanne Abeln
Publikováno v:
F1000Research, Vol 5 (2016)
High-throughput molecular profiling techniques are routinely generating vast amounts of data for translational medicine studies. Secure access controlled systems are needed to manage, store, transfer and distribute these data due to its personally id
Externí odkaz:
https://doaj.org/article/2f45112fd2b54b64862983518402ef2d
Autor:
J Dylan Spalding, Susanna Repo, Tommi Nyrönen, Markus Englund, Mallory Freeberg, Liss Lemsalu
List of groups and committees that oversee the day to day operation of the European Genomic Data Infrasatructure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199976f8146c6e7d4da7b1ef244d4f2c
Publikováno v:
Bioinformatics
Autor:
Corinne S. Martin, Susanna Repo, Juan Arenas Márquez, Niklas Blomberg, Katharina B. Lauer, Xènia Pérez Sitjà, Premysl Velek, Ana M. P. Melo, Christine Stansberg, Francesca De Leo, Elina Griniece, Hannes Rothe, Robert Petryszak, Andrew Smith
Publikováno v:
Annales de l'économie publique, sociale et coopérative (Ed. multiling.) 92 (2021): 497–510. doi:10.1111/apce.12328
info:cnr-pdr/source/autori:Martin, Corinne S.; Repo, Susanna; Arenas Márquez, Juan; Blomberg, Niklas; Lauer, Katharina B.; Pérez Sitjà, Xènia; Velek, Premysl; Melo, Ana M.P.; Stansberg, Christine; De Leo, Francesca; Griniece, Elina; Rothe, Hannes; Petryszak, Robert; Smith, Andrew/titolo:Demonstrating public value to funders and other stakeholders--the journey of ELIXIR, a virtual and distributed research infrastructure for life science data/doi:10.1111%2Fapce.12328/rivista:Annales de l'économie publique, sociale et coopérative (Ed. multiling.)/anno:2021/pagina_da:497/pagina_a:510/intervallo_pagine:497–510/volume:92
Annals of Public and Cooperative Economics
Wiley Online Library
info:cnr-pdr/source/autori:Martin, Corinne S.; Repo, Susanna; Arenas Márquez, Juan; Blomberg, Niklas; Lauer, Katharina B.; Pérez Sitjà, Xènia; Velek, Premysl; Melo, Ana M.P.; Stansberg, Christine; De Leo, Francesca; Griniece, Elina; Rothe, Hannes; Petryszak, Robert; Smith, Andrew/titolo:Demonstrating public value to funders and other stakeholders--the journey of ELIXIR, a virtual and distributed research infrastructure for life science data/doi:10.1111%2Fapce.12328/rivista:Annales de l'économie publique, sociale et coopérative (Ed. multiling.)/anno:2021/pagina_da:497/pagina_a:510/intervallo_pagine:497–510/volume:92
Annals of Public and Cooperative Economics
Wiley Online Library
Open Science is a founding principle of ELIXIR, a pan-European research infrastructure for life science data, with 21 Member countries plus the European Molecular Biology Laboratory. The mission of ELIXIR is to coordinate bioinformatics resources so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52c35a7255e90452f81a5ed0346c9612
https://refubium.fu-berlin.de/handle/fub188/31414
https://refubium.fu-berlin.de/handle/fub188/31414
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants
Autor:
Ayodeji Olatubosun, Dago F Dimster-Denk, Zhiqiang Hu, Pier Luigi Martelli, Mauno Vihinen, Olivier Lichtarge, Frederic Rousseau, Iddo Friedberg, Castrense Savojardo, Sean D. Mooney, Emanuela Leonardi, Greet De Baets, Manuel Giollo, Jouni Väliaho, Yana Bromberg, Rachel Karchin, Chen Cao, Janita Thusberg, Changhua Yu, Susanna Repo, Rita Casadio, David L. Masica, Laura Kasak, Emidio Capriotti, Jasper Rine, Gaurav Pandey, Silvio C. E. Tosatto, John Moult, Lipika R. Pal, Steven E. Brenner, Predrag Radivojac, Panagiotis Katsonis, Joost Schymkowitz, Joost Van Durme, Constantina Bakolitsa
Publikováno v:
Hum Mutat
Human mutation, vol 40, iss 9
Human mutation, vol 40, iss 9
Accurate prediction of the impact of genomic variation on phenotype is a major goal of computational biology and an important contributor to personalized medicine. Computational predictions can lead to a better understanding of the mechanisms underly
Autor:
Predrag Radivojac, Yanran Wang, Kunal Kundu, Maggie Haitian Wang, Laksshman Sundaram, Pier Luigi Martelli, Sohela Shah, Steven E. Brenner, Emanuela Leonardi, Yuxiang Jiang, Roxana Daneshjou, Mehdi Pirooznia, Marco Carraro, Rita Casadio, Biao Li, Giulia Babbi, Peter P. Zandi, John Moult, Silvio C. E. Tosatto, Andre Franke, Yanay Ofran, James B. Potash, David T. Jones, Mauno Vihinen, Billy Chang, Sean D. Mooney, Pietro Di Lena, Roger A. Hoskins, Russ B. Altman, David K. Gifford, Rajendra Rana Bhat, Kymberleigh A. Pagel, Carlo Ferrari, Yana Bromberg, Susanna Repo, Britt-Sabina Petersen, Xiaolin Li, Yizhou Yin, Alexander A. Morgan, Teri E. Klein, Lipika R. Pal, Ron Unger, Samuele Bovo, Abhishek Niroula, Richard W. McCombie, Vikas Pejaver, Eran Bachar, Matthew D. Edwards, Alessandra Gasparini, Johnathan Roy Azaria, Manuel Giollo
Publikováno v:
PMC
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotypeâ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7093df1a3254b2b364be645d9ec72274
https://europepmc.org/articles/PMC5600620/
https://europepmc.org/articles/PMC5600620/
Autor:
Steven E. Brenner, Marco Carraro, Rita Casadio, Giovanni Minervini, Roland L. Dunbrack, Lisa Elefanti, Mauno Vihinen, Maria Chiara Scaini, Yizhou Yin, P. Fariselli, Chiara Menin, Yana Bromberg, Qiong Wei, Silvio C. E. Tosatto, Panagiotis Katsonis, Susanna Repo, John Moult, Yuedong Yang, Pier Luigi Martelli, Emidio Capriotti, Carlo Ferrari, Olivier Lichtarge, Qifang Xu, Lipika R. Pal, Emanuela Leonardi, Huiying Zhao, Jan Zaucha, Abhishek Niroula, Manuel Giollo, Yaoqi Zhou, Julian Gough
Publikováno v:
Human Mutation; 38(9), pp 1042-1050 (2017)
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7f12628e0f88f7c9e73168e2c1d197
https://europepmc.org/articles/PMC5561474/
https://europepmc.org/articles/PMC5561474/
Autor:
Sohini Sengupta, Marco Carraro, Roger A. Hoskins, Silvio C. E. Tosatto, Jean Fan, Nikki Kiga, Christopher Douville, Binghuang Cai, Steven E. Brenner, Dewey Kim, Mark Diekhans, Susanna Repo, Hannah Carter, Manuel Giollo, Rohit Bhattacharya, John Moult, Lipika R. Pal, Jason Bobe, Biao Li, Sean D. Mooney, Rachel Karchin, Emanuela Leonardi, Jan Zaucha, Julian Gough, Yun-Ching Chen, Timothy Bergquist, Hui Ting Grace Yeo, Violeta Beleva-Guthrie, Carlo Ferrari, Tychele N. Turner, Madeleine Ball, George M. Church, Noushin Niknafs, Melissa S. Cline, Collin Tokheim, Yizhou Yin, Chen Hsin Yu, Chen Cao, Janita Thusberg, Mario Stanke
Publikováno v:
Human mutation, vol 38, iss 9
The advent of next-generation sequencing has dramatically decreased the cost for whole-genome sequencing and increased the viability for its application in research and clinical care. The Personal Genome Project (PGP) provides unrestricted access to