Results overview: Found 6 records in 0.01 seconds.
Articles, 5 records found
Research literature, 1 records found
Articles 5 records found  
1.
13 p, 2.2 MB Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR / Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lerga Jaso, Jon (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner Delgado, Carla (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Delprat Obeaga, Alejandra (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (University of Porto. CIBIO/InBIO Research Center in Biodiversity and Genetic Resources (Portugal)) ; Regan, Jack F. (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Karlin Neumann, George (Digital Biology Center. Bio-Rad Laboratories (USA)) ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite the interest in characterizing genomic variation, the presence of large repeats at the breakpoints hinders the analysis of many structural variants. This is especially problematic for inversions, since there is typically no gain or loss of DNA. [...]
2020 - 10.1101/gr.255273.119
Genome research, Vol. 30, Issue 5 (May 2020) , p. 724-735  
2.
9 p, 472.5 KB Global network of computational biology communities : ISCB's regional student groups breaking barriers [version 1; peer review: Not peer reviewed] / Shome, Sayane (Iowa State University. Bioinformatics and Computational Biology Program) ; Gonzalo Parra, R. (European Molecular Biology Laboratory) ; Fatima, Nazeefa (Uppsala University. Department of Immunology. Genetics and Pathology) ; Monzon, Alexander Miguel (University of Padova. Department of Biomedical Sciences) ; Cuypers, Bart (University of Antwerp. Department of Mathematics and Computer Science) ; Moosa, Yumna (KZN Research and Innovation Sequencing Platform) ; De Rocha Coimbra, Nilson (Universidade Federal de Minas Gerais) ; Assis, Juliana (Universidade Federal de Minas Gerais) ; Giner Delgado, Carla (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Dönertaş, Handan Melike (European Bioinformatics Institute) ; Cuesta-Astroz, Yesid (Colombian Tropical Medicine Institute) ; Saarunya, Geetha (University of South Carolina. Department of Biological Sciences) ; Allali, Imane (University of Cape Town. Institute of Infectious Disease and Molecular Medicine) ; Gupta, Shruti (Jawaharlal Nehru University. School of Computational and Integrative Sciences) ; Srivastava, Ambuj (Indian Institute of Technology Madras. Department of Biotechnology) ; Kalsan, Manisha (Jawaharlal Nehru University. School of Computational and Integrative Sciences) ; Valdivia, Catalina (Universidad Andrés Bello. Laboratorio Salud de Ecosistemas) ; Olguin-Orellana, Gabriel J. (Universidad de Talca. Centro de Bioinformática y Simulación Molecular) ; Papadimitriou, Sofia (Vrije Universiteit Brussel. Interuniversity Institute of Bioinformatics in Brussels) ; Parisi, Daniele (KU Leuven. ESAT-STADIUS) ; Kristensen, Nikolaj Pagh (Technical University of Denmark. DTU Health Technology) ; Rib, Leonor (University of Copenhagen. The Bioinformatics Center) ; Guebila, Marouen Ben (University of Luxembourg. Luxembourg Centre for Systems Biomedicine) ; Bauer, Eugen (University of Luxembourg. Luxembourg Centre for Systems Biomedicine) ; Zaffaroni, Gaia (University of Luxembourg. Luxembourg Centre for Systems Biomedicine) ; Bekkar, Amel (University of Lausanne. Swiss Institute of Bioinformatics) ; Ashano, Efejiro (APIN Public Health Initiatives) ; Paladin, Lisanna (University of Padova. Department of Biomedical Sciences) ; Necci, Marco (University of Padova. Department of Biomedical Sciences) ; Moreyra, Nicolás N. (Universidad de Buenos Aires. Instituto de Ecología, Genética y Evolución de Buenos Aires.) ; Rydén, Martin (Lund University. Biomedical Centre) ; Villalobos-Solís, Jordan (Universidad Nacional de Costa Rica. Laboratorio de Biotenología de Plantas) ; Papadopoulos, Nikolaos (Max Planck Institute for Biophysical Chemistry) ; Rafael, Candice (Rhodes University. Research Unit for Bioinformatics) ; Karakulak, Tülay (Dokuz Eylül University. Izmir Biomedicine and Genome Center) ; Kaya, Yasin (Hacettepe University. Faculty of Science. Department of Biology) ; Gladbach, Yasin (Rostock University Medical Centre) ; Dhanda, S.K.Sandeep Kumar (La Jolla Institute for Allergy and Immunology) ; Šoštarić, Nikolina (KU Leuven. Centre of Microbial and Plant Genetics) ; Alex, Aishwarya (Roche Diagnostics Automation Solutions GmbH) ; Deblasio, Dan (Carnegie Mellon University. Computational Biology Department) ; Rahman, Farzana (Canterbury Christ Church University. School of Human and Life Sciences)
Regional Student Groups (RSGs) of the International Society for Computational Biology Student Council (ISCB-SC) have been instrumental to connect computational biologists globally and to create more awareness about bioinformatics education. [...]
2019 - 10.12688/f1000research.20408.1
F1000Research, Vol. 8 (2019) , art. 1574  
3.
28 p, 2.6 MB Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript / Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Castellano Esteve, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pantano, Lorena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner Delgado, Carla (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lucas Lledó, Jose Ignacio (Universitat de València. Institut Cavanilles de Biologia Evolutiva i Biodiversitat) ; Esko, Tõnu (Estonian Genome Center) ; Terao, Chikashi (Kyoto University Graduate School of Medicine) ; Matsuda, Fumihiko (Center for Genomic Medicine. Kyoto University Graduate School of Medicine) ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. [...]
2015 - 10.1371/journal.pgen.1005495
PLoS Genetics, Vol. 11, issue 10 (2015) , art. e1005495  
4.
14 p, 1.8 MB Evolutionary and functional impact of common polymorphic inversions in the human genome / Giner Delgado, Carla (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia) ; Villatoro, Sergi (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lerga Jaso, Jon (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Oliva Pavía, Meritxell (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Castellano Esteve, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pantano, Lorena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Bitarello, Bárbara D. (Max-Planck-Institut für Evolutionäre Anthropologie) ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Noguera, Isaac (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Olalde, Iñigo (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ; Delprat, Alejandra (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Blancher, Antoine (Centre de Physiopathologie Toulouse-Purpan) ; Lalueza-Fox, Carles (Universitat Pompeu Fabra. Institut de Biologia Evolutiva) ; Esko, Tõnu (Estonian Genome Center) ; O'Reilly, Paul F. (King's College London. Institute of Psychiatry, Psychology and Neuroscience) ; Andrés, Aida M. (Max-Planck-Institut für Evolutionäre Anthropologie) ; Ferretti, Luca (University of Oxford. Big Data Institute) ; Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. [...]
2019 - 10.1038/s41467-019-12173-x
Nature communications, Vol. 10 (2019) , art. 4222  
5.
16 p, 742.2 KB Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence / Aguado, Cristina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Villatoro, Sergi (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Oliva Pavía, Meritxell (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner Delgado, Carla (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Montalvo, Víctor (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; García González, Judit (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Martínez Fundichely, Alexander (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Capilla Pérez, Laia (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Ruiz-Herrera, Aurora (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Estivill, Xavier (Centre for Genomic Regulation (Barcelona, Catalunya)) ; Puig, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Cáceres Aguilar, Mario, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult to study, especially those mediated by inverted repeats or segmental duplications. [...]
2014 - 10.1371/journal.pgen.1004208
PLoS Genetics, Vol. 10, Issue 3 (March 2014) , p. e1004151  

Research literature 1 records found  
1.
198 p, 6.3 MB Large-scale evolutionary analysis of polymorphic inversions in the human genome / Giner Delgado, Carla ; Cáceres Aguilar, Mario, dir. ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
Les inversions cromosòmiques són variants estructurals on un fragment de genoma s'inverteix sense canviar-ne el contingut, i durant anys, els seus efectes subtils però importants han fascinat els biòlegs evolutius. [...]
[Barcelona] : Universitat Autònoma de Barcelona, 2018.  

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