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1.
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21 p, 11.5 MB |
Identification of constrained sequence elements across 239 primate genomes
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Kuderna, Lukas F. K. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ulirsch, Jacob C. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Rashid, Sabrina (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ameen, Mohamed (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Sundaram, Laksshman (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Hickey, Glenn (University of California. Santa Cruz Genomics Institute) ;
Cox, Anthony J. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Gao, Hong (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Kumar, Arvind (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Aguet, Francois (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Christmas, Matthew J. (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Clawson, Hiram (University of California. Santa Cruz Genomics Institute) ;
Haeussler, Maximilian (University of California. Santa Cruz Genomics Institu) ;
Janiak, Mareike C. (University of Salford. School of Science, Engineering and Environment) ;
Kuhlwilm, Martin (University of Vienna. Department of Evolutionary Anthropology) ;
Orkin, Joseph D. (Université de Montréal. Département d'Anthropologie) ;
Bataillon, Thomas (Aarhus University. Bioinformatics Research Centre) ;
Shivakumara Manu (Academy of Scientific and Innovative Research (Ghaziabad, Índia)) ;
Valenzuela, Alejandro (Institut de Biologia Evolutiva (Barcelona)) ;
Bergman, Juraj (Aarhus University. Bioinformatics Research Centre) ;
Rouselle, Marjolaine (Aarhus University. Bioinformatics Research Centre) ;
Silva, Felipe Ennes (Mamirauá Institute for Sustainable Development) ;
Agueda Calpena, Lidia (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Blanc, Julie (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Gut, Marta (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
de Vries, Dorien (University of Salford. School of Science, Engineering and Environment) ;
Goodhead, Ian (University of Salford. School of Science, Engineering and Environment) ;
Harris, R. Alan (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Raveendran, Muthuswamy (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Jensen, Axel (Uppsala University. Department of Ecology and Genetics) ;
Chuma, Idriss S. (Tanzania National Parks) ;
Horvath, Julie E. (University of North Carolina at Chapel Hill. Renaissance Computing Institute) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Juan, David (Institut de Biologia Evolutiva (Barcelona)) ;
Frandsen, Peter (Copenhagen Zoo) ;
Schraiber, Joshua G. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
de Melo, Fabiano R. (Universidade Federal de Viçosa) ;
Bertuol, Fabrício (Universidade Federal do Amazonas. Departamento de Genética) ;
Byrne, Hazel (University of Utah. Department of Anthropology) ;
Sampaio, Iracilda (Universidade Federal do Pará (Brasil)) ;
Pires Farias, Izeni (Universidade Federal do Amazonas. Departamento de Genética) ;
Valsecchi, João (Comunidad de Manejo de Fauna Silvestre en la Amazonía y en Latinoamérica-ComFauna) ;
Messias, Malu (Universidade Federal de Rondônia) ;
da Silva, Maria N. F. (Instituto Nacional de Pesquisas da Amazônia) ;
Trivedi, Mihir (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Rossi, Rogerio (Universidade Federal do Mato Grosso. Instituto de Biociências) ;
Hrbek, Tomas (Trinity University. Department of Biology) ;
Andriaholinirina, Nicole (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Rabarivola, Clément J. (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Zaramody, Alphonse (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Jolly, Clifford J. (New York University .Department of Anthropology) ;
Phillips-Conroy, Jane (Washington University School of Medicine in St Louis. Department of Neuroscience) ;
Wilkerson, Gregory (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Abbee, C. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Simmons, Joe H. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Fernandez-Duque, Eduardo (Yale University. Department of Anthropology) ;
Kanthaswamy, Sree (University of California. California National Primate Research Center) ;
Shiferaw, Fekadu (The Carter Center Ethiopia) ;
Wu, Dong-Dong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhou, Long (Zhejiang University School of Medicine. Center for Evolutionary and Organismal Biology) ;
Shao, Yong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhang, Guojie (Zhejiang University Medical Center) ;
Keyyu, Julius D. (Tanzania Wildlife Research Institute) ;
Knauf, Sascha (Justus Liebig University. Faculty of Veterinary Medicine) ;
Le, Minh D. (Vietnam National University. Department of Environmental Ecology) ;
Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ;
Merker, Stefan epartment of Environmental Ecology (State Museum of Natural History Stuttgart. Department of Zoology) ;
Navarro, Arcadi, 1969- (Institut de Biologia Evolutiva (Barcelona)) ;
Nadler, Tilo (Cuc Phuong Commune) ;
Khor, Chiea Chuen (Genome Institute of Singapore) ;
Lee, Jessica (Mandai Nature) ;
Tan, Patrick (Duke-NUS Medical School) ;
Lim, Weng Khong (SingHealth Duke-NUS Genomic Medicine Centre) ;
Kitchener, Andrew C. (School of Geosciences) ;
Zinner, Dietmar (Leibniz ScienceCampus Primate Cognition) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Melin, Amanda D. (University of Calgary. Alberta Children's Hospital Research Institute) ;
Guschanski, Katerina (University of Edinburgh. School of Biological Sciences) ;
Schierup, Mikkel Heide (Aarhus University. Bioinformatics Research Centre) ;
Beck, Robin (University of Salford. School of Science, Engineering and Environment) ;
Karakikes, Ioannis (Stanford University. Department of Cardiothoracic Surgery) ;
Wang, Kevin C. (Veterans Affairs Palo Alto Healthcare System) ;
Umapathy, Govindhaswamy (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Roos, Christian (Leibniz Institute for Primate Research. German Primate Center) ;
Boubli, Jean (University of Salford. School of Science, Engineering and Environment) ;
Siepel, Adam (Simons Center for Quantitative Biology. Cold Spring Harbor Laboratory) ;
Kundaje, Anshul (Stanford University. Department of Genetics) ;
Paten, Benedict (University of California. Santa Cruz Genomics Institute) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Rogers, Jeffrey (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Farh, Kyle Kai-How (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units))
Noncoding DNA is central to our understanding of human gene regulation and complex diseases and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome. [...]
2023 -  10.1038/s41586-023-06798-8
Nature, Published online nov. 2023
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2.
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11 p, 2.4 MB |
Porcine Reproductive and Respiratory Syndrome (PRRSV2) Viral Diversity within a Farrow-to-Wean Farm Cohort Study
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Kikuti, Mariana (University of Minnesota. Department of Veterinary Population Medicine) ;
Vilalta, Carles (Unitat mixta d'investigació IRTA-UAB en Sanitat Animal. Centre de Recerca en Sanitat Animal) ;
Sanhueza, Juan (Universidad Católica de Temuco. Departamento de Ciencias Veterinarias y Salud Pública) ;
Pamornchainavakul, Nakarin (University of Minnesota. Department of Veterinary Population Medicine) ;
Kevill, Jessica (Bangor University. Centre for Environmental Biotechnology) ;
Yang, My (University of Minnesota. Department of Veterinary Population Medicine) ;
Paploski, Igor A. D. (University of Minnesota. Department of Veterinary Population Medicine) ;
Lenskaia, Tatiana (University of Minnesota. Department of Veterinary Population Medicine) ;
Odogwu, Nkechi M. (University of Minnesota. Department of Veterinary Population Medicine) ;
Kiehne, Ross (Swine Vet Center) ;
VanderWaal, Kimberly (University of Minnesota. Department of Veterinary Population Medicine) ;
Schroeder, Declan (University of Minnesota. Department of Veterinary Population Medicine) ;
Corzo, Cesar A. (University of Minnesota. Department of Veterinary Population Medicine)
Describing PRRSV whole-genome viral diversity data over time within the host and within-farm is crucial for a better understanding of viral evolution and its implications. A cohort study was conducted at one naïve farrow-to-wean farm reporting a PRRSV outbreak. [...]
2023 - 10.3390/v15091837
Viruses, Vol. 15 (august 2023)
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3.
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10 p, 2.4 MB |
Spatial genetic structure of European wild boar, with inferences on late-Pleistocene and Holocene demographic history
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de Jong, Joost F. (Wageningen University. Wildlife Ecology & Conservation Group) ;
Iacolina, Laura (University of Primorska. Faculty of Mathematics, Natural Sciences and Information Technologies) ;
Prins, Herbert H. T. (Wageningen University. Animal Sciences Group) ;
van Hooft, Pim (Wageningen University. Wildlife Ecology & Conservation Group) ;
Crooijmans, Richard (Wageningen University. Animal Breeding and Genomics Group) ;
van Wieren, Sip E. (Wageningen University. Wildlife Ecology & Conservation Group) ;
Baños, Joaquin Vicente (Instituto de Investigación en Recursos Cinegéticos) ;
Baubet, Eric (Office Français pour la Biodiversité) ;
Cahill, Sean (Consorci del Parc Natural de la Serra de Collserola. Estació Biològica de Can Balasc) ;
Ferreira, Eduardo (University of Aveiro. Department of Biology & CESAM - Centre for Environmental and Marine Studies) ;
Fonseca, Carlos (University of Aveiro. Department of Biology & CESAM - Centre for Environmental and Marine Studies) ;
Glazov, Peter M. (Russian Academy of Sciences. Institute of Geography) ;
Jelenko Turinek, Ida (Ministry of Environment and Spatial Planning) ;
Lizana, Victor (Universitat Autònoma de Barcelona. Grup de Recerca Wildlife Ecology & Health) ;
Náhlik, András (Sapientia Hungarian University of Transylvania) ;
Pokorny, Boštjan (Slovenian Forestry Institute) ;
Podgórski, Tomasz (Czech University of Life Sciences. Department of Game Management and Wildlife Biology) ;
Sprem, Nikica (University of Zagreb. Department of Fisheries, Apiculture, Wildlife Management and Special Zoology) ;
Veeroja, Rauno (Estonian Environment Agency) ;
Ydenberg, Ronald C. (Simon Fraser University. Centre of Wildlife Ecology) ;
Megens, Hendrik-Jan (Wageningen University. Animal Breeding and Genomics Group)
European wildlife has been subjected to intensifying levels of anthropogenic impact throughout the Holocene, yet the main genetic partitioning of many species is thought to still reflect the late-Pleistocene glacial refugia. [...]
2023 - 10.1038/s41437-022-00587-1
Heredity, Vol. 130 (january 2023) , p. 135-144
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4.
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7 p, 312.9 KB |
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome
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Elias-Mas, Andrea (Universitat de Barcelona) ;
Potrony, Miriam (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bague, Jaume (Hospital Clínic i Provincial de Barcelona) ;
Cutler, David J. (Emory University School of Medicine) ;
Álvarez-Mora, María Isabel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Torres, Teresa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Barcos, Tamara (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Puig-Butille, Joan Anton (Hospital Clínic i Provincial de Barcelona) ;
Rubio, Marta (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Madrigal, Irene (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Puig, Susana (Hospital Clínic i Provincial de Barcelona) ;
Allen, Emily G. (Emory University School of Medicine (Estats Units d'Amèrica)) ;
Rodriguez-Revenga, Laia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55-200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. [...]
2023 - 10.3389/fnagi.2022.1073258
Frontiers in aging neuroscience, Vol. 14 (january 2023)
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5.
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18 p, 3.8 MB |
Integrative epigenomics in Sjögren's syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature
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Teruel, María (Universidad de Granada) ;
Barturen, Guillermo (Universidad de Granada) ;
Martínez-Bueno, Manuel (Universidad de Granada) ;
Castellini-Pérez, Olivia (Universidad de Granada) ;
Barroso-Gil, Miguel (Universidad de Granada) ;
Povedano, Elena (Universidad de Granada) ;
Kerick, Martin (Consejo Superior de Investigaciones Científicas) ;
Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Makowska, Zuzanna (Bayer Pharma) ;
Buttgereit, Anne (Bayer Pharma) ;
Beretta, Lorenzo (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Vigone, Barbara (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Pers, Jacques Olivier (Hospital de la Cavale Blanche) ;
Saraux, Alain (Hospital de la Cavale Blanche) ;
Devauchelle-Pensec, Valérie (Hospital de la Cavale Blanche) ;
Cornec, Divi (Hospital de la Cavale Blanche) ;
Jousse-Joulin, Sandrine (Hospital de la Cavale Blanche) ;
Lauwerys, Bernard (Université catholique de Louvain) ;
Ducreux, Julie (Université Catholique de Louvain) ;
Maudoux, Anne Lise (Université catholique de Louvain) ;
Vasconcelos, Carlos (Centro Hospitalar do Porto) ;
Tavares, Ana (Centro Hospitalar do Porto) ;
Neves, Esmeralda (Centro Hospitalar e Universitário do Porto) ;
Faria, Raquel (Centro Hospitalar do Porto) ;
Brandão, Mariana (Centro Hospitalar do Porto) ;
Campar, Ana (Centro Hospitalar do Porto) ;
Marinho, António (Centro Hospitalar do Porto) ;
Farinha, Fátima (Centro Hospitalar do Porto) ;
Almeida, Isabel (Centro Hospitalar do Porto) ;
Gozalez-Gay Mantecón, Miguel Angel (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Blanco, Ricardo (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Corrales Martínez, Alfonso (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Cervera, Ricard (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Rodríguez-Pintó, Ignasi (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Espinosa, Gerard (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Lories, Rik (Katholieke Universiteit Leuven) ;
De Langhe, Ellen (University Hospitals Leuven (Bèlgica)) ;
Hunzelmann, Nicolas (Klinikum der Universitaet zu Koeln) ;
Belz, Doreen (Klinikum der Universitaet zu Koeln) ;
Witte, Torsten (Medical University Hannover) ;
Baerlecken, Niklas (Medizinische Hochschule Hannover) ;
Stummvoll, Georg (Medical University Vienna) ;
Zauner, Michael (Medical University Vienna) ;
Lehner, Michaela (Medical University Vienna) ;
Collantes Estevéz, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Ortega-Castro, Rafaela (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Aguirre, Mª Angeles (Hospital Universitario "Reina Sofía" (Còrdova, Espanya)) ;
Escudero-Contreras, Alejandro (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Castro-Villegas, Ma Carmen (Hospital Universitario San Cecilio (Granada)) ;
Ortego, Norberto (Complejo Hospitalario Universitario de Granada) ;
Fernández Roldán, María Concepción (Complejo Hospitalario Universitario de Granada) ;
Raya, Enrique (Complejo Hospitalario Universitario de Granada) ;
Jiménez Moleón, Inmaculada (Complejo Hospitalario Universitario de Granada) ;
de Ramon, Enrique (Hospital Regional Universitario de Málaga) ;
Díaz Quintero, Isabel (Hospital Regional Universitario de Málaga) ;
Meroni, Pier Luigi (Università degli studi di Milano) ;
Gerosa, Maria (Università degli studi di Milano) ;
Schioppo, Tommaso (Università degli studi di Milano) ;
Artusi, Carolina (Università degli studi di Milano) ;
Chizzolini, Carlo (University Hospital and School of Medicine) ;
Zuber, Aleksandra (Hospitaux Universitaires de Genève) ;
Wynar, Donatienne (Hospitaux Universitaires de Genève) ;
Kovács, Laszló (University of Szeged) ;
Balog, Attila (University of Szeged) ;
Deák, Magdolna (University of Szeged) ;
Bocskai, Márta (University of Szeged) ;
Dulic, Sonja (University of Szeged) ;
Kádár, Gabriella (University of Szeged) ;
Hiepe, Falk (Charite) ;
Gerl, Velia (Charité University Hospital) ;
Thiel, Silvia (Charité University Hospital) ;
Rodriguez Maresca, Manuel (Andalusian Public Health System Biobank) ;
López-Berrio, Antonio (Andalusian Public Health System Biobank) ;
Aguilar-Quesada, Rocío (Andalusian Public Health System Biobank) ;
Navarro-Linares, Héctor (Andalusian Public Health System Biobank) ;
Álvarez, Montserrat (Immunology and Allergy. University Hospital and School of Medicine) ;
Alvarez‑Errico, Damiana (Institut d'Investigació Biomèdica de Bellvitge) ;
Azevedo, Nancy (Centro Hospitalar e Universitário do Porto) ;
Barbarroja, Nuria (Bayer Pharma) ;
Buttgereit, Anne (Bayer Pharma) ;
Cheng, Qingyu (Charité University Hospital) ;
Chizzolini, Carlo (University Hospital and School of Medicine) ;
Cremer, Jonathan (KU Leuven) ;
De Groof, Aurélie (Université Catholique de Louvain) ;
De Langhe, Ellen (University Hospitals Leuven (Bèlgica)) ;
Ducreux, Julie (Université Catholique de Louvain) ;
Dufour, Aleksandra (University Hospital and School of Medicine) ;
Gerl, Velia (Charité University Hospital) ;
Hernandez‑Fuentes, Maria (UCB) ;
Khodadadi, Laleh (Charité University Hospital) ;
Kniesch, Katja (Medical University Hannover) ;
Li, Tianlu (Charité University Hospital) ;
Lopez‑Pedrera, Chary (Université Catholique de Louvain) ;
Makowska, Zuzanna (Bayer Pharma) ;
Marañón, Concepción (Universidad de Granada) ;
Muchmore, Brian (Universidad de Granada) ;
Neves, Esmeralda (Centro Hospitalar e Universitário do Porto) ;
Rouvière, Bénédicte (University of Brest) ;
Simon, Quentin (University of Brest) ;
Trombetta, Elena (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano) ;
Varela, Nieves (Medical University Hannover) ;
Witte, Torsten (Medical University Hannover) ;
Pers, Jacques Olivier (Hospital de la Cavale Blanche) ;
Marañón, Concepción (Universidad de Granada) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martin, Javier (Consejo Superior de Investigaciones Científicas) ;
Carnero-Montoro, Elena (Universidad de Granada) ;
Alarcón-Riquelme, Marta E (Karolinska Institutet (Estocolm, Suècia)) ;
Universitat Autònoma de Barcelona
Primary Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors involved. [...]
2021 - 10.1038/s41598-021-01324-0
Scientific reports, Vol. 11 Núm. 1 (december 2021) , p. 23292
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6.
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12 p, 2.6 MB |
Transposable element polymorphisms improve prediction of complex agronomic traits in rice
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Vourlaki, Ioanna-Theoni (Centre de Recerca en Agrigenòmica) ;
Ramos-Onsins, Sebastián E. (Centre de Recerca en Agrigenòmica) ;
Casacuberta i Suñer, Josep M 1962- (Centre de Recerca en Agrigenòmica) ;
Perez-Enciso, Miguel (Universitat Autònoma de Barcelona. Departament de Patologia i de Producció Animals) ;
Castanera, Raúl (Centre de Recerca en Agrigenòmica)
Key message: Transposon insertion polymorphisms can improve prediction of complex agronomic traits in rice compared to using SNPs only, especially when accessions to be predicted are less related to the training set. [...]
2022 - 10.1007/s00122-022-04180-2
Theoretical and Applied Genetics, Vol. 135, Issue 9 (September 2022) , p. 3211-3222
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7.
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14 p, 1.2 MB |
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
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Storm, Catherine S. (University College London) ;
Kia, Demis A. (University College London) ;
Almramhi, Mona M. (King Abdulaziz University) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Finan, Chris (University Medical Center Utrecht) ;
Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ;
Middlehurst, B. (University of Liverpool) ;
Tan, M. (University College London) ;
Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ;
Morris, H. R. (University College London) ;
Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Hardy, J. (UCL Institute of Neurology (Regne Unit)) ;
Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ;
Quinn, J. (Institute of Translational Medicine. University of Liverpool) ;
Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ;
Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ;
Kinghorn, K. J. (University College London) ;
Lewis, P. (University of Reading) ;
Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ;
Lovering, R. (University College London) ;
R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ;
Manzoni, C. (University of Reading) ;
Rizig, M. (UCL Institute of Neurology (Regne Unit)) ;
Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ;
Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ;
Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ;
Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ;
Morrison, K. E. (Faculty of Medicine. University of Southampton) ;
Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ;
Harvey, K. (UCL School of Pharmacy) ;
Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ;
Brice, Alexis (Sorbonne Université) ;
Danjou, Fabrice (Sorbonne Université) ;
Lesage, S. (Sorbonne Universités) ;
Corvol, Jean-Christophe (Sorbonne Universités) ;
Martinez, M. (Paul Sabatier University) ;
Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (University of Tübingen) ;
Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ;
Sharma, M. (University of Tubingen) ;
Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ;
Schneider, S. A. (udwig-Maximilians-University Munich) ;
Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ;
Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ;
Craig, David W (University of Southern California) ;
Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ;
Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ;
Faghri, F. (University of Illinois at Urbana-Champaign) ;
Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ;
Shulman, J. M. (Texas Children's Hospital) ;
Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ;
Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, M. A. (CEO/Consultant Data Tecnica International) ;
Robak, L. (Baylor College of Medicine) ;
Bras, Jose (Van Andel Research Institute) ;
Guerreiro, Rita (Van Andel Research Institute) ;
Lubbe, S. (Northwestern University Feinberg School of Medicine) ;
Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ;
Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ;
Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ;
Uitti, R. J. (Mayo Clinic) ;
Ross, O. A. (Mayo Clinic) ;
Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ;
Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ;
Alcalay, Roy N (Columbia University Medical Center) ;
Wszolek, Z. K. (Mayo Clinic) ;
Gan-Or, Z. (McGill University) ;
Rouleau, G. A. (McGill University) ;
Krohn, L. (McGill University) ;
Mufti, K. (McGill University) ;
van Hilten, J. J. (Leiden University Medical Center) ;
Marinus, J. (Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguilar Barberà, Miquel (Mútua de Terrassa) ;
Alvarez, Ignacio (Mútua de Terrassa) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, F. J. (Universidad de Granada) ;
Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Botía, J. A. (Universidad de Murcia) ;
Boungiorno, M. T. (Mútua de Terrassa) ;
Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, M. (Mútua de Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C.. (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, Pilar (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
González, M. M. (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Hospital Clínic i Provincial de Barcelona) ;
Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez-Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Ruz, Clara (Universidad de Granada) ;
Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, Maria (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, J. P. (Mútua de Terrassa) ;
Tejera-Parrado, C. (v) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Universidad de Granada) ;
Zimprich, Alexander (Medical University of Vienna) ;
Pihlstrom, L. (Oslo University Hospital (Oslo)) ;
Toft, M. (Oslo University Hospital (Oslo, Noruega)) ;
Taba, P. (University of Tartu) ;
Koks, S. (The Perron Institute for Neurological and Translational Science) ;
Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ;
Majamaa, K. (Oulu University Hospital (Finlàndia)) ;
Siitonen, A. (Oulu University Hospital (Finlàndia)) ;
Tienari, P. (Helsinki University Hospital (Finlàndia)) ;
Okubadejo, N. U. (University of Lagos) ;
Ojo, O. O. (University of Lagos) ;
Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ;
Zharkinbekova, N. (South Kazakhstan Medical Academy) ;
Akhmetzhanov, Vadim (Astana Medical University) ;
Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Khaibullin, T. (Semey Medical University) ;
Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ;
Hingorani, Aroon (Health Data Research UK) ;
Wood, Nicholas W.. (University College London) ;
Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342
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26 p, 17.4 MB |
High-depth African genomes inform human migration and health
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Choudhury, Ananyo (University of the Witwatersrand) ;
Aron, S. (University of the Witwatersrand) ;
Botigué, Laura (Centre de Recerca en Agrigenòmica) ;
Sengupta, D. (University of the Witwatersrand) ;
Botha, G. (University of Cape Town) ;
Bensellak, T. (Abdelmalek Essaadi University) ;
Wells, G. (University of the Western Cape) ;
Kumuthini, J. (University of the Western Cape) ;
Shriner, Daniel (National Institutes of Health (USA)) ;
Fakim, Y. J. (University of Mauritius) ;
Ghoorah, A. W. (University of Mauritius) ;
Dareng, E. (Institute of Human Virology Nigeria) ;
Odia, T. (Covenant University) ;
Falola, O. (Covenant University) ;
Adebiyi, E. (Covenant University) ;
Hazelhurst, S. (University of the Witwatersrand) ;
Mazandu, G. (University of Cape Town) ;
Nyangiri, O. A. (Makerere University) ;
Mbiyavanga, M. (University of Cape Town) ;
Benkahla, A. (Institute Pasteur of Tunis) ;
Kassim, S. K. (Ain Shams University (El Caire, Egipte)) ;
Mulder, N. (University of Cape Town) ;
Adebamowo, S. N. (University of Maryland Baltimore) ;
Chimusa, E. R. (University of Cape Town) ;
Muzny, D. (Baylor College of Medicine) ;
Metcalf, G. (Baylor College of Medicine) ;
Gibbs, R. A. (Baylor College of Medicine) ;
Rotimi, C. (National Institutes of Health (USA)) ;
Ramsay, M. (University of the Witwatersrand) ;
Adeyemo, Adebowale A (National Institutes of Health (USA)) ;
Lombard, Z. (University of the Witwatersrand) ;
Hanchard, N. A. (Baylor College of Medicine) ;
TrypanoGEN Research Group ;
H3Africa Consortium
The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed. [...]
2020 - 10.1038/s41586-020-2859-7
Nature, Vol. 586 (October 2020) , p. 741-748
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9.
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1.1 MB |
Synergism interaction between genetic polymorphisms in drug metabolizing enzymes and NSAIDs on upper gastrointestinal haemorrhage : a multicenter case-control study
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Mallah, Narmeen (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ;
Zapata-Cachafeiro, Maruxa (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Aguirre, Carmelo (Universidad del País Vasco) ;
Ibarra-García, Eguzkiñe (Hospital de Urduliz Alfredo Espinosa) ;
Palacios-Zabalza, Itziar (Hospital de Galdakao (Usansolo, Biscaia)) ;
Macías-García, Fernando (Complejo Hospitalario Universitario de Santiago de Compostela) ;
Piñeiro-Lamas, María (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Ibáñez, Luisa (Hospital Universitari Vall d'Hebron) ;
Vidal Guitart, Xavier (Hospital Universitari Vall d'Hebron) ;
Vendrell Bosch, Lourdes (Hospital Universitari Vall d'Hebron) ;
Martin-Arias, Luis (Universidad de Valladolid) ;
Sáinz-Gil, María (Universidad de Valladolid) ;
Velasco-González, Verónica (Universidad de Valladolid) ;
Bacariza-Cortiñas, Manuel (Centro de Saúde de Vite) ;
Salgado, Angel (University of Santiago de Compostela) ;
Estany-Gestal, Ana (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Figueiras, Adolfo (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Universitat Autònoma de Barcelona
Interindividual genetic variations contribute to differences in patients' response to drugs as well as to the development of certain disorders. Patients who use non-steroidal anti-inflammatory drugs (NSAIDs) may develop serious gastrointestinal disorders, mainly upper gastrointestinal haemorrhage (UGIH). [...]
2022 - 10.1080/07853890.2021.2016940
Annals of Medicine, Vol. 54 (february 2022) , p. 379-392
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17 p, 867.3 KB |
Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes
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Clop, Alex (Centre de Recerca en Agrigenòmica) ;
Sharaf, Abdoallah (Ain Shams University. Faculty of agriculture) ;
Castelló Farré, Anna (Centre de Recerca en Agrigenòmica) ;
Ramos-Onsins, Sebastian (Centre de Recerca en Agrigenòmica) ;
Cirera, Susanna (University of Copenhagen. Department of Veterinary and Animal Sciences) ;
Mercadé Carceller, Anna (Centre de Recerca en Agrigenòmica) ;
Derdak, Sophia (Universitat Pompeu Fabra) ;
Beltran i Agulló, Sergi (Universitat Pompeu Fabra) ;
Huisman, Abe (Hypor BV (The Netherlands)) ;
Fredholm, Merete (University of Copenhagen. Department of Veterinary and Animal Sciences) ;
van As, Pieter (Hendrix Genetics Research & Technology Centre) ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Taste receptors (TASRs) are essential for the body's recognition of chemical compounds. In the tongue, TASRs sense the sweet and umami and the toxin-related bitter taste thus promoting a particular eating behaviour. [...]
2016 - 10.1186/s12864-016-2972-z
BMC genomics, Vol. 17 (August 2016) , art. 685
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