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Articles, 3 registres trobats
Articles 3 registres trobats  
1.
11 p, 625.0 KB Human inversions and their functional consequences / Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Casillas Viladerrams, Sònia (Universitat Autoènoma de Barcelona. Departament de Genètica i de Microbiologia) ; Villatoro, Sergi (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Polymorphic inversions are a type of structural variants that are difficult to analyze owing to their balanced nature and the location of breakpoints within complex repeated regions. So far, only a handful of inversions have been studied in detail in humans and current knowledge about their possible functional effects is still limited. [...]
2015 - 10.1093/bfgp/elv020
Briefings in Functional Genomics, Vol. 14, issue 5 (2015) , p. 369-379  
2.
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 (Institut de Biologia Evolutiva (UPF CSIC)) ; Delprat, Alejandra (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Blancher, Antoine (Centre de Physiopathologie Toulouse-Purpan) ; Lalueza-Fox, Carles (Institut de Biologia Evolutiva (UPF CSIC)) ; 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  
3.
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  

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