Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Maria Livia Famiglietti"'
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 6, p 648 (2024)
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consumin
Externí odkaz:
https://doaj.org/article/3722586b49164fedad407d6675067559
Autor:
Kyubum Lee, Maria Livia Famiglietti, Aoife McMahon, Chih-Hsuan Wei, Jacqueline Ann Langdon MacArthur, Sylvain Poux, Lionel Breuza, Alan Bridge, Fiona Cunningham, Ioannis Xenarios, Zhiyong Lu
Publikováno v:
PLoS Computational Biology, Vol 14, Iss 8, p e1006390 (2018)
Manually curating biomedical knowledge from publications is necessary to build a knowledge based service that provides highly precise and organized information to users. The process of retrieving relevant publications for curation, which is also know
Externí odkaz:
https://doaj.org/article/376e555f409d4b71af420208bc0e11d0
Autor:
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22a0ecd6ab22544aaa90fbfd38d1a39
https://doi.org/10.1101/2023.01.11.22283790
https://doi.org/10.1101/2023.01.11.22283790
Autor:
Michele Magrane, Sandra Orchard, George Georghiou, Ruth C. Lovering, Livia Perfetto, Lionel Breuza, Sylvain Poux, Ghislaine Argoud-Puy, Cristina Casals-Casas, Nadine Gruaz-Gumowski, Shyamala Sundaram, Maria Livia Famiglietti, Elizabeth Wu, Ursula Hinz, Arnaud Gos, Barbara Kramarz, Yvonne Lussi, Christian J. Stoeckert, Cecilia N. Arighi, Anne Estreicher, Milagros Rodríguez-López, Li-San Wang, Nevila Hyka-Nouspikel, Patrick Masson
Publikováno v:
Journal of Alzheimer's Disease
Background: The analysis and interpretation of data generated from patient-derived clinical samples relies on access to high-quality bioinformatics resources. These are maintained and updated by expert curators extracting knowledge from unstructured
Autor:
Fábio Madeira, Emmanuel Boutet, Ursula Hinz, Teresa Batista Neto, Parit Bansal, Manuela Pruess, Kristian B. Axelsen, Arnaud Kerhornou, Cecilia N. Arighi, Lai-Su L. Yeh, Shadab Ahmad, John S. Garavelli, Cathy H. Wu, Florence Jungo, Alan Bridge, Leonardo Gonzales, Sandra Orchard, Patrick Masson, Douglas Teodoro, Maria Jesus Martin, Anne Estreicher, Kamal Chikh Echioukh, Hongzhan Huang, Patrick Ruch, Christian J. A. Sigrist, C. R. Vinayaka, Yvonne Lussi, Anne Morgat, Yongxing Chen, Austra Cukura, Emanuele Alpi, Ramona Britto, Alexandr Ignatchenko, Sylvain Poux, Rizwan Ishtiaq, Lionel Breuza, Jun Fan, Edouard de Castro, Petteri Jokinen, Nicole Redaschi, Darren A. Natale, Daniel Rice, Giuseppe Insana, George Georghiou, Nevila Hyka-Nouspikel, Karen E. Ross, Katie Moulang, Vicente Lara, Arnaud Gos, Michael Tognolli, Alok Mishra, Ivo Pedruzzi, Nidhi Tyagi, Leyla Jael Garcia Castro, Edward Turner, Cristina Casals-Casas, Tunca Doğan, Nadine Gruaz-Gumowski, Chantal Hulo, Maria Livia Famiglietti, Andrew Nightingale, Paul Denny, Lucila Aimo, Rossana Zaru, Vishal Joshi, Alistair MacDougall, Andre Stutz, Penelope Garmiri, Carla Susana Oliveira, Hermann Zellner, Marie-Claude Blatter, Emily H Bowler-Barnett, Philippe Le Mercier, Abdulrahman Hussein, Catherine Rivoire, Tony Sawford, Milagros Rodriguez Lopez, Salvo Paesano, Vladimir Volynkin, Manuela Menchi, Hema Bye-A-Jee, Monica Pozzato, Kati Laiho, Delphine Baratin, Qinghua Wang, Leslie Arminski, Preethi Vasudev, Sangya Pundir, Jian Zhang, Emma Hatton-Ellis, Kate Warner, Lucille Pourcel, Elisabeth Gasteiger, Marc Feuermann, Thierry Lombardot, Jerven Bolleman, Mahdi Mahmoudy, Shyamala Sundaram, Alex Bateman, Xavier Watkins, Rahat Agivetova, Guoying Qi, Peter B. McGarvey, Xavier D. Martin, Chuming Chen, Jie Luo, Ray Coetzee, K Sonesson, Alan Wilter Sousa da Silva, ThankGod Ebenezer, Elena Speretta, Rodrigo Lopez, Elisabeth Coudert, Aurelien Luciani, Vivienne Baillie Gerritsen, Yuqi Wang, M Doche, Michele Magrane, Antonia Lock, Dolnide Dornevil, Sandrine Pilbout, Borisas Bursteinas, Andrea H. Auchincloss, Béatrice A. Cuche, Dushyanth Jyothi, Rabie Saidi, Joseph Sampson, Laure Verbregue, Sebastien Gehant, Guillaume Keller, Shriya Raj, Damien Lieberherr, Ghislaine Argoud-Puy
Publikováno v:
Nucleic acids symposium series, 49(D1):D480-D489
Nucleic Acids Research
Nucleic acids research, Vol. 49, No D1 (2021) pp. D480-D489
Nucleic Acids Research
Nucleic acids research, Vol. 49, No D1 (2021) pp. D480-D489
The aim of the UniProt Knowledgebase is to provide users with a comprehensive, high-quality and freely accessible set of protein sequences annotated with functional information. In this article, we describe significant updates that we have made over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbc39a701c00fab2f8e9cd325fc3977e
https://repository.publisso.de/resource/frl:6425514
https://repository.publisso.de/resource/frl:6425514
Autor:
Aoife McMahon, Zhiyong Lu, Jacqueline A. L. MacArthur, Maria Livia Famiglietti, Alan Bridge, Chih-Hsuan Wei, Fiona Cunningham, Lionel Breuza, Sylvain Poux, Ioannis Xenarios, Kyubum Lee
Publikováno v:
PLoS Computational Biology, Vol 14, Iss 8, p e1006390 (2018)
PLoS computational biology, vol. 14, no. 8, pp. e1006390
PLoS Computational Biology
PLoS computational biology, vol. 14, no. 8, pp. e1006390
PLoS Computational Biology
Manually curating biomedical knowledge from publications is necessary to build a knowledge based service that provides highly precise and organized information to users. The process of retrieving relevant publications for curation, which is also know
Autor:
Michele Magrane, Chih-Hsuan Wei, Zhiyong Lu, Hema Bye-A-Jee, Alex Bateman, Bernd Roechert, Maria Livia Famiglietti, Sylvain Poux, Cecilia N. Arighi, Emmanuel Boutet
MOTIVATIONBiological knowledgebases, such as UniProtKB/Swiss-Prot, constitute an essential component of daily scientific research by offering distilled, summarized, and computable knowledge extracted from the literature by expert curators. While know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90e71c97cfeef17b35115136230db61f
Autor:
Ioannis Xenarios, Jerven Bolleman, Sebastien Gehant, Alan Bridge, Anne Estreicher, Lydie Bougueleret, Nicole Redaschi, Arnaud Gos, Lionel Breuza, Sylvain Poux, Maria Livia Famiglietti
Publikováno v:
Human Mutation
Human Mutation, vol. 35, no. 8, pp. 927-935
Human Mutation, vol. 35, no. 8, pp. 927-935
During the last few years, next-generation sequencing (NGS) technologies have accelerated the detection of genetic variants resulting in the rapid discovery of new disease-associated genes. However, the wealth of variation data made available by NGS
Publikováno v:
Protein Science Encyclopedia ISBN: 3527610758
Protein Science Encyclopedia
Protein Science Encyclopedia
Originally published in: Biomedical Applications of Proteomics. Edited by Jean-Charles Sanchez, Garry L. Corthals and Denis F. Hochstrasser. Copyright © 2004 Wiley-VCH Verlag GmbH & Co. KGaA Weinheim. Print ISBN: 3-527-30807-1 The sections in this a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9451b4f2f3b15ea4b534cfe49ad18144
https://doi.org/10.1002/9783527610754.md03
https://doi.org/10.1002/9783527610754.md03
Autor:
Fabrice P. A. David, Maria Livia Famiglietti, Paula D. Duek, Amos Marc Bairoch, Yum Lina Yip, Alain Gateau, Arnaud Gos
Publikováno v:
Human Mutation, Vol. 29, No 3 (2008) pp. 361-6
UniProtKB/Swiss-Prot (http://beta.uniprot.org/uniprot; last accessed: 19 October 2007) is a manually curated knowledgebase providing information on protein sequences and functional annotation. It is part of the Universal Protein Resource (UniProt). T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c7524469a2dbd3e424e944a64556b8
https://archive-ouverte.unige.ch/unige:766
https://archive-ouverte.unige.ch/unige:766