Results overview: Found 4 records in 0.02 seconds.
Articles, 4 records found
Articles 4 records found  
10 p, 1.2 MB Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources / Köhler, S. (Monarch Initiative) ; Carmody, L. (Jackson Laboratory for Genomic Medicine) ; Vasilevsky, N. (Oregon Health and Science University) ; Jacobsen, J.O.B. (Queen Mary University of London) ; Danis, D. (Jackson Laboratory for Genomic Medicine) ; Gourdine, J.P. (Oregon Health and Science University) ; Gargano, M. (Jackson Laboratory for Genomic Medicine) ; Harris, N.L. (Lawrence Berkeley National Laboratory) ; Matentzoglu, N. (European Bioinformatics Institute) ; McMurry, J.A. (Oregon State University) ; Osumi-Sutherland, D. (European Bioinformatics Institute) ; Cipriani, V. (University College of London) ; Balhoff, J.P. (University of North Carolina at Chapel Hill) ; Conlin, T. (Oregon State University) ; Blau, H. (Jackson Laboratory for Genomic Medicine) ; Baynam, Gareth (Government of Western Australia) ; Palmer, R. (Curtin University) ; Gratian, D. (Government of Western Australia) ; Dawkins, H. (Government of Western Australia) ; Segal, M. (SimulConsult) ; Jansen, A.C. (UZ Brussel) ; Muaz, A. (Darlinghurst) ; Chang, W.H. (Centre for Computational Medicine. Hospital for Sick Children. Department of Computer Science. University of Toronto) ; Bergerson, J. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Laulederkind, S.J.F. (Marquette University) ; Yüksel, Z. (Bioscientia GmbH) ; Beltran i Agulló, Sergi (Universitat Pompeu Fabra) ; Freeman, A.F. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Sergouniotis, P.I. (University of Manchester. Manchester Royal Eye Hospital) ; Durkin, D. (Jackson Laboratory for Genomic Medicine) ; Storm, A.L. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Hanauer, M. (INSERM) ; Brudno, M. (University of Toronto) ; Bello, S.M. (Jackson Laboratory) ; Sincan, M. (Sanford Health) ; Rageth, K. (Sanford Health) ; Wheeler, M.T. (Stanford University School of Medicine) ; Oegema, R. (University Medical Center) ; Lourghi, H. (INSERM) ; Della Rocca, M.G. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Thompson, R. (Newcastle University) ; Castellanos, F. (Jackson Laboratory for Genomic Medicine) ; Priest, J. (Stanford University School of Medicine) ; Cunningham-Rundles, C. (Mount Sinai School of Medicine) ; Hegde, A. (Jackson Laboratory for Genomic Medicine) ; Lovering, R.C. (University College London) ; Hajek, C. (Sanford Imagenetics. Sanford Health) ; Olry, A. (INSERM) ; Notarangelo, L. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Similuk, M. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Zhang, X.A. (Jackson Laboratory for Genomic Medicine) ; Gómez-Andrés, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lochmüller, H. (Ottawa Hospital) ; Dollfus, H. (Strasbourg University Hospital) ; Rosenzweig, S. (NIH Clinical Center) ; Marwaha, S. (Stanford University School of Medicine) ; Rath, A. (INSERM) ; Sullivan, K. (University of Pennsylvania Perelman School of Medicine) ; Smith, C. (Jackson Laboratory) ; Milner, J.D. (National Institute of Allergy and Infectious Diseases (Bethesda, Estats Units d'Amèrica)) ; Leroux, D. (Strasbourg University Hospital) ; Boerkoel, C.F. (Sanford Health) ; Klion, A. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Carter, M.C. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Groza, T. (Darlinghurst) ; Smedley, D. (Queen Mary University of London) ; Haendel, M.A. (Oregon State University) ; Mungall, C. (Lawrence Berkeley National Laboratory) ; Robinson, P.N. (University of Connecticut) ; Universitat Autònoma de Barcelona
The Human Phenotype Ontology (HPO) - a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases - is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. [...]
2019 - 10.1093/nar/gky1105
Nucleic acids research, Vol. 47 Núm. D1 (august 2019) , p. D1018-D1027  
11 p, 1.3 MB Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer / Feliubadaló, Lidia (Institut Català d'Oncologia) ; Tonda, Raúl (Centro Nacional de Análisis Genómico (CNAG-CRG)) ; Gausachs, Mireia (Institut Català d'Oncologia) ; Trotta, Jean-Rémi (Centro Nacional de Análisis Genómico (CNAG-CRG)) ; Castellanos, Elisabeth (Institut Germans Trias i Pujol) ; López-Doriga, Adriana (Institut Català d'Oncologia) ; Teulé, Àlex (Institut Català d'Oncologia) ; Tornero, Eva (Institut Català d'Oncologia) ; del Valle, Jesús (Institut Català d'Oncologia) ; Gel, Bernat (Institut Germans Trias i Pujol) ; Gut,Marta (Centro Nacional de Análisis Genómico (CNAG-CRG)) ; Pineda,Marta (Institut Català d'Oncologia) ; González,Sara (Institut Català d'Oncologia) ; Menéndez,Mireia (Institut Català d'Oncologia) ; Navarro, Matilde (Institut Català d'Oncologia) ; Capellá, Gabriel (Institut Català d'Oncologia) ; Gut, Ivo (Centro Nacional de Análisis Genómico (CNAG-CRG)) ; Serra, Eduard (Institut Germans Trias i Pujol) ; Brunet, Joan (Institut Català d'Oncologia) ; Beltran i Agulló, Sergi (Centro Nacional de Análisis Genómico (CNAG-CRG)) ; Lázaro, Conxi (Institut Català d'Oncologia)
Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. [...]
2017 - 10.1038/srep37984
Scientific reports (Nature Publishing Group), 2017-11  
9 p, 1.2 MB From Wet-Lab to Variations : Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing / Laurie, Steve (Centre de Regulació Genòmica) ; Fernandez-Callejo, Marcos (Centre de Regulació Genòmica) ; Marco-Sola, Santiago (Universitat Pompeu Fabra) ; Trotta, Jean-Remi (Universitat Pompeu Fabra) ; Camps, Jordi (Centre de Regulació Genòmica) ; Chacón, Alejandro (Universitat Autònoma de Barcelona) ; Espinosa, Antonio (Universitat Autònoma de Barcelona) ; Gut, Marta (Centre de Regulació Genòmica) ; Gut, Ivo (Universitat Pompeu Fabra) ; Heath, Simon (Universitat Pompeu Fabra) ; Beltran i Agulló, Sergi (Centre de Regulació Genòmica)
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost-performance ratio is not advancing at an equivalent rate. [...]
2016 - 10.1002/humu.23114
Human mutation, Vol. 37, Issue 12 (December 2016) , p. 1263-1271  
15 p, 522.3 KB Thermal evolution of gene expression profiles in Drosophila subobscura / Laayouni, Hafid (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; García Franco, Francisco (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Chávez Sandoval, Blanca Estela (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Trotta, Vincenzo (Università di Bologna (Itàlia). Dipartimento di Biologia Evoluzionistica Sperimentale) ; Beltran i Agulló, Sergi (Universitat de Barcelona. Departament de Genètica) ; Santos, Mauro (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Corominas, Montserrat (Universitat de Barcelona. Departament de Genètica)
Background: Despite its pervasiveness, the genetic basis of adaptation resulting in variation directly or indirectly related to temperature (climatic) gradients is poorly understood. By using 3-fold replicated laboratory thermal stocks covering much of the physiologically tolerable temperature range for the temperate (i. [...]
2007 - 10.1186/1471-2148-7-42
BMC evolutionary biology, Vol. 7, N. 42 (March 2007) , p. 1-15  

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