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812.9 KB |
Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs
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Moon, Katherine L. (University of California. Department of Ecology and Evolutionary Biology) ;
Huson, Heather J. (Cornell University College of Agriculture and Life Sciences. Department of Animal Sciences) ;
Morrill, Kathleen (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Wang, Ming-Shan (University of California. Howard Hughes Medical Institute) ;
Li, Xue (Broad Institute of MIT and Harvard) ;
Srikanth, Krishnamoorthy (Cornell University College of Agriculture and Life Sciences. Department of Animal Sciences) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Svenson, Gavin J. (Cleveland Museum of Natural History) ;
Karlsson, Elinor K. (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Shapiro, Beth (University of California. Department of Ecology and Evolutionary Biology)
We reconstruct the phenotype of Balto, the heroic sled dog renowned for transporting diphtheria antitoxin to Nome, Alaska in 1925, using evolutionary constraint estimates from the Zoonomia alignment of 240 mammals and 682 genomes from dogs and wolves of the 21st century. [...]
2023 -  10.1126/science.abn5887
Science, Vol. 380 Num. 6643 (April 2023) , art. eabn5887
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2.
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0 p, 943.5 KB |
The contribution of historical processes to contemporary extinction risk in placental mammals
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Wilder, Aryn P. (San Diego Zoo Wildlife Alliance. Conservation Genetics) ;
Supple, Megan A. (University of California. Department of Ecology and Evolutionary Biology) ;
Subramanian, Ayshwarya (Broad Institute of MIT and Harvard) ;
Mudide, Anish (Phillips Exeter Academy) ;
Swofford, Ross (Broad Institute of MIT and Harvard) ;
Serres-Armero, Aitor (Institut de Biologia Evolutiva (UPF-CSIC) (Barcelona)) ;
Steiner, Cynthia (San Diego Zoo Wildlife Alliance. Conservation Genetics) ;
Koepfli, Klaus-Peter (Smithsonian Conservation Biology Institute) ;
Genereux, Diane P. (Broad Institute of MIT and Harvard) ;
Karlsson, Elinor K. (University of Massachusetts Medical School) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Muñoz-Fuentes, Violeta (European Molecular Biology Laboratory-European Bioinformatics Institute. Wellcome Genome Campus) ;
Foley, Kathleen (Lehigh University. Department of Biological Sciences) ;
Meyer, Wynn K. (Lehigh University, Department of Biological Sciences) ;
Ryder, Oliver A. (University of California. Department of Evolution, Behavior and Ecology) ;
Shapiro, Beth (University of California. Howard Hughes Medical Institute)
Species persistence can be influenced by the amount, type, and distribution of diversity across the genome, suggesting a potential relationship between historical demography and resilience. Here, we surveyed genetic variation across single genomes of 240 mammals comprising the Zoonomia alignment to evaluate how historical effective population size (N ) impacts heterozygosity and deleterious genetic load and how these factors may contribute to extinction risk. [...]
2023 - 10.1126/science.abn5856
Science, Vol. 380, Num. 6643 (April 2023) , art. eabn5856
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3.
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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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8 p, 1.3 MB |
Standards recommendations for the Earth BioGenome Project
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Lawniczak, Mara K. N. (Wellcome Sanger Institute (Cambridge)) ;
Durbin, Richard (University of Cambridge. Department of Genetics) ;
Flicek, Paul (Wellcome Sanger Institute (Cambridge)) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Wei, Xiaofeng (China National GeneBank) ;
Archibald, John M. (Dalhousie University. Department of Biochemistry & Molecular Biology) ;
Baker, William J.. (Royal Botanic Gardens. Department of Accelerated Taxonomy) ;
Belov, Katherine (University of Sydney. School of Life and Environmental Sciences) ;
Blaxter, Mark (Wellcome Sanger Institute (Cambridge)) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Childers, Anna K. (US Department of Agriculture. Beltsville Agricultural Research Center) ;
Coddington, Jonathan A. (Smithsonian Institution. National Museum of Natural History) ;
Crandall, Keith A. (George Washington University. Department of Biostatistics & Bioinformatics) ;
Crawford, Andrew J. (Universidad de los Andes. Department of Biological Sciences (Colombia)) ;
Davey, Robert P. (Norwich Research Park. Earlham Institute (UK)) ;
Di Palma, Federica (Genome British Columbia (Vancouver)) ;
Fang, Qi (BGI-Shenzhen (China)) ;
Haerty, Wilfried (Norwich Research Park. Earlham Institute (UK)) ;
Hall, Neil (Norwich Research Park. Earlham Institute (UK)) ;
Hoff, Katharina (University of Greifswald. Center for Functional Genomics of Microbes) ;
Howe, Kerstin (Wellcome Sanger Institute (Cambridge)) ;
Jarvis, Erich (The Rockefeller University. Vertebrate Genomes Laboratory (USA)) ;
Johnson, Warren E. (Smithsonian Conservation Biology Institute) ;
Johnson, Rebecca (Smithsonian Institution. National Museum of Natural History) ;
Kersey, Paul J. (European Bioinformatics Institute. European Molecular Biology Laboratory (UK)) ;
Liu, Xin (China National GeneBank) ;
Lopez, Jose V. (Nova Southeastern University. Guy Harvey Oceanographic Center) ;
Myers, Eugene W. (Max Planck Institute of Molecular Cell Biology and Genetics (Germany)) ;
Vinnere Pettersson, Olga (Uppsala University. Science for Life Laboratory) ;
Phillippy, Adam M. (National Institutes of Health. National Human Genome Research Institute (USA)) ;
Poelchau, Monica (United States. Department of Agriculture. Agricultural Research Service) ;
Pruitt, Kim D. (National Library of Medicine. National Center for Biotechnology Information (USA)) ;
Rhie, Arang (National Institutes of Health. National Human Genome Research Institute (USA)) ;
Castilla-Rubio, Juan Carlos (Spacetime Ventures (Brazil)) ;
Sahu, Sunil Kumar (China National GeneBank) ;
Salmon, Nicholas A. (Wellcome Sanger Institute (Cambridge)) ;
Soltis, Pamela (University of Florida. Florida Museum of Natural History) ;
Swarbreck, David (Norwich Research Park. Earlham Institute (UK)) ;
Thibaud-Nissen, Françoise (National Library of Medicine. National Center for Biotechnology Information (USA)) ;
Wang, Sibo (China National GeneBank) ;
Wegrzyn, Jill (University of Connecticut. Department of Ecology and Evolutionary Biology) ;
Zhang, Guojie (China National GeneBank) ;
Zhang, He (BGI-Shenzhen (China)) ;
Lewin, Harris A. (University of California Davis. Department of Evolution and Ecology (USA)) ;
Richards, Stephen (University of California Davis. Genome Center)
A global international initiative, such as the Earth BioGenome Project (EBP), requires both agreement and coordination on standards to ensure that the collective effort generates rapid progress toward its goals. [...]
2022 - 10.1073/pnas.2115639118
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Num. 4 (January 2022) , art. e2115639118
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7 p, 1.4 MB |
The Earth BioGenome Project 2020: Starting the clock
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Lewin, Harris A. (University of California Davis. Department of Evolution and Ecology (USA)) ;
Richards, Stephen (University of California Davis. Genome Center) ;
Aiden, Erez (Baylor College of Medicine) ;
Allende, Miguel L. (Universidad de Chile. Center for Genome Regulation) ;
Archibald, John M. (Dalhousie University. Department of Biochemistry & Molecular Biology) ;
Bálint, Miklós M. (Senckenberg Leibniz Institution for Biodiversity and Earth System Research. LOEWE Centre of Translational Biodiversity Genomics) ;
Barker, Katharine M. (Smithsonian Institution. National Museum of Natural History) ;
Baumgartnerk, Bridget (Revive & Restore (USA)) ;
Belov, Katherine (University of Sydney. School of Life and Environmental Sciences) ;
Bertorelle, Giorgio (University of Ferrara. Department of Life Sciences and Biotechnology) ;
Blaxter, Mark (Wellcome Sanger Institute (Cambridge)) ;
Cai, Jing (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Caperello, Nicolette (University of California Davis. Genome Center) ;
Carlson, Keith (University of California Santa Barbara) ;
Castilla-Rubio, Juan Carlos (Spacetime Ventures (Brazil)) ;
Chaw, Shu-Miaw (Academia Sinica. Biodiversity Research Center (Taiwan)) ;
Chen, Lei (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Childers, Anna K. (US Department of Agriculture. Beltsville Agricultural Research Center) ;
Coddington, Jonathan A. (Smithsonian Institution. National Museum of Natural History) ;
Conde, Dalia A. (University of Southern Denmark. Department of Biology) ;
Corominas, Montserrat (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Crandall, Keith A. (George Washington University. Department of Biostatistics & Bioinformatics) ;
Crawford, Andrew J. (Universidad de los Andes. Department of Biological Sciences (Colombia)) ;
Di Palma, Federica (Genome British Columbia (Vancouver)) ;
Durbin, Richard (University of Cambridge. Department of Genetics) ;
Ebenezer, ThankGod E. (Wellcome Genome Campus. European Bioinformatics Institute) ;
Edwards, Scott (Harvard University. Department of Organismic and Evolutionary Biology) ;
Fedrigo, Olivier (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Flicek, Paul (Wellcome Trust Sanger Institute (Regne Unit)) ;
Formenti, Giulio (The Rockefeller University. Vertebrate Genome Lab (USA)) ;
Gibbs, Richard A. (Baylor College of Medicine. Human Genome Sequencing Center) ;
Gilbert, M. Thomas P. (University of Copenhagen. The GLOBE Institute) ;
Goldstein, Melissa M. (George Washington University. Department of Health Policy and Management) ;
Marshall Graves, Jennifer A. (University of Canberra. Institute for Applied Ecology) ;
Greely, Henry (Stanford University. Stanford Law School) ;
Grigoriev, Igor (United States. Department of Energy. Joint Genome Institute) ;
Hackett, Kevin J. (United States. Department of Agriculture. Agricultural Research Service) ;
Hall, Neil (Norwich Research Park. Earlham Institute (UK)) ;
Haussler, David (University of California Santa Cruz. Genome Institute (USA)) ;
Helgen, Kristofer M. (Australian Museum Research Institute) ;
Hogg, Carolyn J. (University of Sydney. School of Life and Environmental Sciences) ;
Isobe, Sachiko (Kazusa DNA Research Institute. Department of Frontier Research and Development) ;
Jakobsen, Kjetill Sigurd (University of Oslo. Department of Biosciences) ;
Janke, Axel (Senckenberg Leibniz Institution for Biodiversity and Earth System Research. LOEWE Centre of Translational Biodiversity Genomics) ;
Jarvis, Erich (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Johnson, Warren E. (Smithsonian Conservation Biology Institute) ;
Jones, Steven J. M. (Canada's Michael Smith Genome Sciences Centre) ;
Karlsson, Elinor K. (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Kersey, Paul J. (Royal Botanic Gardens Kew) ;
Kim, Jin-Hyoung (Korea Polar Research Institute. Division of Life Sciences) ;
Kress, W. John (Smithsonian Institution. National Museum of Natural History) ;
Kuraku, Shigehiro (National Institute of Genetics. Department of Genomics and Evolutionary Biology) ;
Lawniczak, Mara K. N. (Wellcome Sanger Institute (Cambridge)) ;
Leebens-Mack, James H. (University of Georgia. Department of Plant Biology) ;
Li, Xueyan (Chinese Academy of Sciences. Kunming Institute of Zoology) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Liu, Xin (Beijing Genomics Institute-Shenzhen) ;
Lopez, Jose V. (Nova Southeastern University. Department of Biological Sciences) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Mazard, Sofhie (Macquarie University. Bioplatforms Australia) ;
Mazet, Jonna (University of California Davis. One Health Institute) ;
Mazzoni, Camila J. (Berlin Center for Genomics in Biodiversity Research) ;
Myers, Eugene W. (Max Planck Institute of Molecular Cell Biology and Genetics (Germany)) ;
O'Neill, Rachel J. (University of Connecticut. Institute for Systems Genomics) ;
Paez, Sadye (The Rockefeller University. Laboratory of the Neurogenetics of Language (USA)) ;
Park, Hyun (Korea University. Division of Biotechnology) ;
Robinson, Gene (University of Illinois at Urbana−Champaign. Department of Entomology) ;
Roquet, Cristina (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Ryder, Oliver A (University of California San Diego. Department of Evolution, Behavior, and Ecology (USA)) ;
Sabir, Jamal S. M. (King Abdulaziz University. Department of Biological Sciences (Saudi Arabia)) ;
Shaffer, Howard Bradley (University of California, Los Angeles. Department of Ecology and Evolutionary Biology) ;
Shank, Timothy M. (Woods Hole Oceanographic Institution) ;
Sherkow, Jacob S. (University of Illinois at Urbana−Champaign. Department of Entomology) ;
Soltis, Pamela (University of Florida. Florida Museum of Natural History) ;
Tang, Boping (Yancheng Teachers University. School of Wetlands (China)) ;
Tedersoo, Leho (University of Tartu. Center of Mycology and Microbiology) ;
Uliano da Silva, Marcela (Wellcome Sanger Institute (Cambridge)) ;
Wang, Kun (Northwestern Polytechnical University. School of Ecology and Environment (China)) ;
Wei, Xiaofeng (Beijing Genomics Institute-Shenzhen) ;
Wetzer, Regina (University of Southern California, Los Angeles. Biological Sciences) ;
Wilson, Julia L. (Wellcome Sanger Institute (Cambridge)) ;
Xu, Xun (Beijing Genomics Institute-Shenzhen) ;
Yang, Huanming (Beijing Genomics Institute-Shenzhen) ;
Yoder, Anne (Duke University, Durham. Department of Biology) ;
Zhang, Guojie (Beijing Genomics Institute-Shenzhen)
2022 - 10.1073/pnas.2115635118
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Num. 4 (2022) , art. e2115635118
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28 p, 5.4 MB |
BarkBase : Epigenomic Annotation of Canine Genomes
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Megquier, Kate (Vertebrate Genomics, Broad Institute of MIT and Harvard, Cambridge.) ;
Genereux, Diane P. (Broad Institute of MIT and Harvard) ;
Hekman, Jessica (Broad Institute of MIT and Harvard) ;
Swofford, Ross (Broad Institute of MIT and Harvard) ;
Turner-Maier, Jason (Broad Institute of MIT and Harvard) ;
Johnson, Jeremy (Broad Institute of MIT and Harvard) ;
Alonso, Jacob (Broad Institute of MIT and Harvard) ;
Li, Xue (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Morrill, Kathleen (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Anguish, Lynne J. (Cornell University. Baker Institute for Animal Health) ;
Koltookian, Michele (Broad Institute of MIT and Harvard) ;
Logan, Brittney (University of Massachusetts Medical School. Bioinformatics and Integrative Biology) ;
Sharp, Claire R. (Murdoch University. School of Veterinary and Life Sciences) ;
Ferrer i Caubet, Lluís (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry & Microbiology) ;
Meyers-Wallen, Vicki N. (Cornell University. Baker Institute for Animal Health) ;
Hoffman, Andrew (Tufts University. Cummings School of Veterinary Medicine) ;
Karlsson, Elinor K. (University of Massachusetts Medical School. Program in Molecular Medicine)
Dogs are an unparalleled natural model for investigating the genetics of health and disease, particularly for complex diseases like cancer. Comprehensive genomic annotation of regulatory elements active in healthy canine tissues is crucial both for identifying candidate causal variants and for designing functional studies needed to translate genetic associations into disease insight. [...]
2019 - 10.3390/genes10060433
Genes, Vol. 10 (june 2019)
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11 p, 2.1 MB |
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs
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Olsson, Mia (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Meadows, Jennifer R. S. (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Truvé, Katarina (Swedish University of Agricultural Sciences. Department of Animal Breeding and Genetics) ;
Rosengren Pielberg, Gerli (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Puppo, Francesca (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Mauceli, Evan (Massachusetts Institute of Technology (Cambridge, Estats Units d'Amèrica)) ;
Quílez Oliete, Javier (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Tonomura, Noriko (Massachusetts Institute of Technology (Cambridge, Estats Units d'Amèrica)) ;
Zanna, Giordana (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Docampo, María José (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Bassols Teixidó, Anna Maria (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Avery, Anne C. (Colorado State University. Department of Microbiology, Immunology, and Pathology) ;
Thomas, Anne (ANTAGENE Laboratory (França)) ;
Kastner, Daniel L. (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Bongcam-Rudloff, Erik (Uppsala University. Linnaeus Centre for Bioinformatics) ;
Webster, Matthew T. (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia)) ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Hedhammar, Åke (Swedish University of Agricultural Sciences) ;
Remmers, Elaine F. (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Andersson, Leif (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia)) ;
Ferrer i Caubet, Lluís (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Tintle, Linda (Wurtsboro Veterinary Clinic (Nova York, Estats Units d'Amèrica)) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia))
Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. [...]
2011 - 10.1371/journal.pgen.1001332
PLoS Genetics, Vol. 7, Issue 3 (March 2011) , p. e1001332
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