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9 p, 404.0 KB |
Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
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Alcina, Antonio (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Fedetz, Maria (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Fernández, Óscar (Hospital Regional Universitario Carlos Haya (Málaga)) ;
Saiz, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Izquierdo, Guillermo (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Lucas, Miguel (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Leyva, Laura (Hospital Regional Universitario Carlos Haya (Málaga)) ;
García-León, Juan Antonio (Hospital Regional Universitario Carlos Haya (Málaga)) ;
Abad-Grau, María del Mar (Universidad de Granada) ;
Alloza, Iraide (Universidad del País Vasco) ;
Antigüedad, Alfredo (Hospital de Basurto (Bilbao, Biscaia)) ;
Garcia-Barcina, María J. (Hospital de Basurto (Bilbao, Biscaia)) ;
Vandenbroeck, Koen (Universidad del País Vasco) ;
Varadé, Jezabel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
de la Hera, Belén (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Arroyo, Rafael (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Petit-Marty, Natalia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Navarro, Arcadi 1969- (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Otaegui, David (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Olascoaga, Javier (Hospital Universitario Donosti) ;
Blanco, Yolanda (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra")
Background and aim: Several studies have highlighted the association of the 12q13. 3-12q14. 1 region with coeliac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS); however, the causal variants underlying diseases are still unclear. [...]
2013 -  10.1136/jmedgenet-2012-101085
Journal of medical genetics, Vol. 50, Issue 1 (May 2013) , p. 25-33
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5 p, 788.2 KB |
Great ape genetic diversity and population history
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Prado-Martinez, Javier (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Sudmant, Peter H. (Department of Genome Sciences. University of Washington) ;
Kidd, Jeffrey (Department of Genetics. Stanford University) ;
Li, Heng (Department of Genetics. Harvard Medical School, Boston) ;
Kelley, Joanna (Department of Genetics. Stanford University) ;
Lorente-Galdos, Belen (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Veeramah, Krishna (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
Woerner, August (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
O'Connor, Timothy (Department of Genome Sciences. University of Washington) ;
Santpere, Gabriel (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Cagan, Alexander (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Theunert, Christoph (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Casals, Ferran (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Laayouni, Hafid (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Munch Terkelsen, Kasper (Aarhus University. Bioinformatics Research Centre) ;
Hobolth, Asger (Aarhus University. Bioinformatics Research Centre) ;
Halager, Anders E. (Aarhus University. Bioinformatics Research Centre) ;
Malig, Maika (Department of Genome Sciences. University of Washington) ;
Hernandez-Rodriguez, Jessica (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Hernando-Herraez, Irene (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Prüfer, Kay (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Pybus, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Johnstone, Laurel (Arizona Research Laboratories. Division of Biotechnology. University of Arizona) ;
Lachmann, Michael (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Alkan, Can (Bilkent University. Faculty of Engineering) ;
Twigg, Dorina (Department of Human Genetics. University of Michigan) ;
Petit Marty, Natalia (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Baker, Carl (Department of Genome Sciences. University of Washington) ;
Hormozdiari, Fereydoun (University of Washington. Department of Genome Sciences) ;
Fernández, Marcos (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Dabad, Marc (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Wilson, Michael L. (Department of Anthropology. University of Minnesota) ;
Stevison, Laurie (Institute for Human Genetics. University of California San Francisco) ;
Camprubí Sánchez, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Carvalho, Tiago (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Vives, Laura T. (Department of Genome Sciences. University of Washington) ;
Mele, Marta (Centre de Regulació Genòmica) ;
Abelló, María Teresa. (Zoo de Barcelona) ;
Kondova, Ivanela (Biomedical Primate Research Centre) ;
Bontrop, Ronald (Biomedical Primate Research Centre) ;
Pusey, Anne E (Duke University. Department of Evolutionary Anthropology) ;
Lankester, Felix (Washington State University. Paul G. Allen School for Global Animal Health) ;
Kiyang, John A. (Limbe Wildlife Centre) ;
Bergl, Richard A. (North Carolina Zoological Park) ;
Lonsdorf, E. (Franklin and Marshall College. Department of Psychology) ;
Myers, S. (Oxford University. Department of Statistics) ;
Ventura, M. (University of Bari. Department of Genetics and Microbiology) ;
Gagneux, Pascal (University of California San Diego. Department of Cellular and Molecular Medicine) ;
Comas, D. (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Siegismund, H. (University of Copenhagen Department of Biology, Bioinformatics) ;
Blanc, Julie (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Agueda Calpena, Lidia (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Gut, Marta (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Fulton, L. A (Washington University School of Medicine. Genome Sequencing Center) ;
Tishkoff, S. A. (University of Pennsylvania. Department of Biology and Genetics) ;
Mullikin, J. C. (National Institutes of Health Intramural Sequencing Center (Bethesda, Estats Units d'Amèrica)) ;
Wilson, R. K. (Washington University School of Medicine. Genome Sequencing Center) ;
Gut, I. G. (Centro Nacional de Análisis Genómico (CNAG). PCB) ;
Gonder, M. K. (University at Albany) ;
Ryder, O. A. (Genetics Division. San Diego Zoo's Institute for Conservation Research) ;
Hahn, B. H. (University of Pennsylvania. Departments of Medicine and Microbiology) ;
Navarro, Arcadi, 1969- (Institució Catalana de Recerca i Estudis Avançats) ;
Akey, J. M. (University of Washington. Department of Genome Sciences) ;
Bertranpetit, Jaume (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Reich, D. (Harvard Medical School. Department of Genetics) ;
Mailund, Thomas (Aarhus University. Bioinformatics Research Centre) ;
Schierup, Mikkel Heide (Aarhus University. Department of Bioscience) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Andrés, A. M. (Max Planck Institute for Evolutionary Anthropology. Department of Evolutionary Genetics) ;
Wall, J. D. (University of California San Francisco. Institute for Human Genetics) ;
Bustamante, Carlos D (Stanford University. Department of Genetics) ;
Hammer, M. F. (University of Arizona. Arizona Research Laboratories. Division of Biotechnology) ;
Eichler, Evan E (Howard Hughes Medical Institute) ;
Marques-Bonet, Tomas 1975- (Institució Catalana de Recerca i Estudis Avançats)
Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88. [...]
2013 - 10.1038/nature12228
Nature, Vol. 499, issue 7459 (July 2013) , p. 471-475
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