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63 p, 25.7 MB |
A draft human pangenome reference
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Liao, Wen-Wei (Washington University School of Medicine) ;
Asri, Mobin (University of California) ;
Ebler, Jana (Heinrich Heine University) ;
Doerr, Daniel (Heinrich Heine University) ;
Haukness, Marina (University of California) ;
Hickey, Glenn (University of California) ;
Lu, Shuangjia (Yale University School of Medicine) ;
Lucas, Julian K. (University of California) ;
Monlong, Jean (University of California) ;
Abel, Haley J. (Washington University School of Medicine) ;
Buonaiuto, Silvia (Consiglio Nazionale delle Ricerche. Istituto di Genetica e Biofisica) ;
Chang, Xian H. (University of California) ;
Cheng, Haoyu (Harvard Medical School) ;
Chu, Justin (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Colonna, Vincenza (University of Tennessee Health Science Center) ;
Eizenga, Jordan (University of California) ;
Feng, Xiaowen (Harvard Medical School) ;
Fischer, Christian (University of Tennessee Health Science Center) ;
Fulton, Robert S. (Washington University School of Medicine) ;
Garg, Shilpa (Technical University of Denmark) ;
Groza, Cristian (McGill University) ;
Guarracino, Andrea (Tecnopolo umano. Centro di ricerca sulla genomica) ;
Harvey, William T. (University of Washington School of Medicine) ;
Heumos, Simon (University of Tübingen) ;
Howe, Kerstin (Wellcome Trust Sanger Institute (Regne Unit)) ;
Jain, Miten (Northeastern University (USA)) ;
Lu, Tsung-Yu (University of Southern California) ;
Markello, Charles (University of California) ;
Martin, Fergal J. (Wellcome Genome Campus (UK)) ;
Mitchell, Matthew W. (Coriell Institute for Medical Research (USA)) ;
Munson, Katherine M. (University of Washington School of Medicine) ;
Mwaniki, Moses Njagi (Università di Pisa) ;
Novak, Adam M. (University of California) ;
Olsen, Hugh E. (University of California) ;
Pesout, Trevor (University of California) ;
Porubsky, David (University of Washington School of Medicine) ;
Prins, Pjotr (University of Tennessee Health Science Center) ;
Sibbesen, Jonas A. (University of Copenhagen) ;
Sirén, Jouni (University of California) ;
Tomlinson, Chad (Washington University School of Medicine) ;
Villani, Flavia (University of Tennessee Health Science Center) ;
Vollger, Mitchell R. (University of Washington School of Medicine) ;
Antonacci-Fulton, Lucinda L. (Washington University School of Medicine) ;
Baid, Gunjan (Google (USA)) ;
Baker, Carl A. (University of Washington School of Medicine) ;
Belyaeva, Anastasiya (Google (USA)) ;
Billis, Konstantinos (Wellcome Genome Campus (UK)) ;
Carroll, Andrew (Google (USA)) ;
Chang, Pi-Chuan (Google (USA)) ;
Cody, Sarah (Washington University School of Medicine) ;
Cook, Daniel E. (Google (USA)) ;
Cook-Deegan, Robert M. (Arizona State University) ;
Cornejo, Omar E. (University of California) ;
Diekhans, Mark (University of California) ;
Ebert, Peter (Heinrich Heine University) ;
Fairley, Susan (Wellcome Genome Campus (UK)) ;
Fedrigo, Olivier (The Rockefeller University) ;
Felsenfeld, Adam L. (National Institutes of Health (USA)) ;
Formenti, Giulio (The Rockefeller University) ;
Frankish, Adam (Wellcome Genome Campus (UK)) ;
Gao, Yan (The Children's Hospital of Philadelphia) ;
Garrison, Nanibaa' A. (University of California) ;
Giron, Carlos Garcia (Wellcome Genome Campus (UK)) ;
Green, Richard E. (Dovetail Genomics) ;
Haggerty, Leanne (Wellcome Genome Campus (UK)) ;
Hoekzema, Kendra (University of Washington School of Medicine) ;
Hourlier, Thibaut (Wellcome Genome Campus (UK)) ;
Ji, Hanlee P. (Stanford University School of Medicine) ;
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ;
Koenig, Barbara A. (University of California) ;
Kolesnikov, Alexey (Google (USA)) ;
Korbel, Jan O. (European Molecular Biology Laboratory) ;
Kordosky, Jennifer (University of Washington School of Medicine) ;
Koren, Sergey (National Institutes of Health (USA)) ;
Lee, HoJoon (Stanford University School of Medicine) ;
Lewis, Alexandra P. (University of Washington School of Medicine) ;
Magalhães, Hugo (Heinrich Heine University) ;
Marco-Sola, Santiago (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ;
Marijon, Pierre (Heinrich Heine University) ;
McCartney, Ann (National Institutes of Health (USA)) ;
McDaniel, Jennifer (National Institute of Standards and Technology (USA)) ;
Mountcastle, Jacquelyn (The Rockefeller University) ;
Nattestad, Maria (Google (USA)) ;
Nurk, Sergey (National Institutes of Health (USA)) ;
Olson, Nathan D. (National Institute of Standards and Technology (USA)) ;
Popejoy, Alice B. (University of California) ;
Puiu, Daniela (Johns Hopkins University) ;
Rautiainen, Mikko (National Institutes of Health (USA)) ;
Regier, Allison A. (Washington University School of Medicine) ;
Rhie, Arang (National Institutes of Health (USA)) ;
Sacco, Samuel (University of California) ;
Sanders, Ashley D. (Max Delbrück Center for Molecular Medicine in the Helmholtz Association) ;
Schneider, Valerie A. (National Institutes of Health (USA)) ;
Schultz, Baergen I. (National Institutes of Health (USA)) ;
Shafin, Kishwar (Google (USA)) ;
Smith, Michael W. (National Institutes of Health (USA)) ;
Sofia, Heidi J. (National Institutes of Health (USA)) ;
Abou Tayoun, Ahmad N. (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Thibaud-Nissen, Françoise (National Institutes of Health (USA)) ;
Tricomi, Francesca Floriana (Wellcome Genome Campus (UK)) ;
Wagner, Justin (National Institute of Standards and Technology (USA)) ;
Walenz, Brian (National Institutes of Health (USA)) ;
Wood, Jonathan M. D. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Zimin, Aleksey V. (Johns Hopkins University) ;
Bourque, Guillaume (Kyoto University) ;
Chaisson, Mark (University of Southern California) ;
Flicek, Paul (Wellcome Genome Campus (UK)) ;
Phillippy, Adam M. (National Institutes of Health (USA)) ;
Zook, Justin M. (National Institute of Standards and Technology (USA)) ;
Eichler, Evan E. (Howard Hughes Medical Institute) ;
Haussler, David (Howard Hughes Medical Institute) ;
Wang, Ting (Washington University School of Medicine) ;
Jarvis, Erich (The Rockefeller University) ;
Miga, Karen H. (University of California) ;
Garrison, Erik (University of Tennessee Health Science Center) ;
Marschall, Tobias (Heinrich Heine University) ;
Hall, Ira M. (Yale University School of Medicine) ;
Li, Heng (Harvard Medical School) ;
Paten, Benedict (University of California)
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. [...]
2023 -  10.1038/s41586-023-05896-x
Nature, Vol. 617 (May 2023) , p. 312-324
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15 p, 2.9 MB |
Feeding Ecology of the Cuvier's Gazelle (Gazella cuvieri, Ogilby, 1841) in the Sahara Desert
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Herrera-Sánchez, F. Javier (Universidad de Granada. Departamento de Zoología) ;
López Garrido, Omar (Universitat Autònoma de Barcelona. Grup de Recerca Wildlife Ecology & Health) ;
Rodríguez-Siles, Javier (Harmusch, Study and Conservation of Wildlife) ;
Díaz-Portero, Miguel Ángel (Harmusch, Study and Conservation of Wildlife) ;
Arredondo, Ángel (Harmusch, Study and Conservation of Wildlife) ;
Sáez, Juan Manuel (Harmusch, Study and Conservation of Wildlife) ;
Álvarez, Begoña (Harmusch, Study and Conservation of Wildlife) ;
Cancio, Inmaculada (Harmusch, Study and Conservation of Wildlife) ;
de Lucas, Jesús (Harmusch, Study and Conservation of Wildlife) ;
Pérez, Joaquín (Harmusch, Study and Conservation of Wildlife) ;
Valenzuela, Gerardo (Harmusch, Study and Conservation of Wildlife) ;
Martínez-Valderrama, Jaime (Estación Experimental de Zonas Áridas) ;
Sánchez-Cerdá, Mariola (Harmusch, Study and Conservation of Wildlife) ;
Qninba, Abdeljebbar (Institut Scientifique, Mohammed V University in Rabat. Laboratoire de Géo-Biodiversité et Patrimoine Naturel) ;
Virgós, Emilio (Universidad Rey Juan Carlos. Departamento de Biología y Geología, Física y Química Inorgánica) ;
Calleja, Juan Antonio (Centre de Recerca Ecològica i d'Aplicacions Forestals) ;
Bartolomé, Jordi (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Albanell Trullas, Elena (Universitat Autònoma de Barcelona. Grup de Recerca en Remugants (G2R)) ;
Serrano Ferron, Emmanuel (Universitat Autònoma de Barcelona. Grup de Recerca Wildlife Ecology & Health) ;
Abáigar, Teresa (Estación Experimental de Zonas Áridas) ;
Gil-Sánchez, Jose María (Universidad de Granada. Departamento de Zoología)
The Sahara desert is home to the greatest diversity of ungulates of all deserts. In this harsh environment, the endangered Cuvier's gazelle finds at the southernmost limit of its distribution a key population for its survival. [...]
2023 - 10.3390/ani13040567
Animals, Vol. 13 (february 2023)
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12 p, 3.6 MB |
Outcomes of patients with heart failure with preserved ejection fraction discharged on treatment with neurohormonal antagonists after an episode of decompensation
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Tost, Josep (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Llorens-Soriano, Pere (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Cotter, Gad (Momentum Research. Durham) ;
Davison, Beth A (Momentum Research. Durham) ;
Jacob, Javier (Hospital Universitari de Bellvitge) ;
Gil, Víctor (Universitat de Barcelona) ;
Herrero-Puente, Pablo (Hospital Universitario Central de Asturias) ;
Martín-Sánchez, Francisco Javier (Hospital Clínico San Carlos (Madrid)) ;
Donea, Ruxandra (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Rodríguez, Beatriz (Hospital Universitario Infanta Leonor) ;
Lucas-Imbernon, Francisco Javier (Complejo Hospitalario Universitario de Albacete) ;
Andueza, Juan Antonio (Hospital General Universitario Gregorio Marañón) ;
Mecina, Ana Belén (Hospital Universitario Fundación Alcorcón) ;
Torres-Gárate, Raquel (Hospital Universitario Severo Ochoa) ;
Piñera, Pascual (Hospital General Universitario Reina Sofía (Múrcia, Múrcia)) ;
Alquézar-Arbé, A (Institut d'Investigació Biomèdica Sant Pau) ;
Espinosa, Bego (Instituto de Investigación Sanitaria y Biomédica de Alicante) ;
Mebazaa, A. (The GREAT network) ;
Chioncel, O. (University of Medicine Carol Davila) ;
Miró, Òscar (The GREAT network)
Aims: To analyze the frequency with which patients with heart failure with preserved ejection fraction (HFpEF) discharged after an acute heart failure (AHF) episode are treated with antineurohormonal drugs (ANHD), the variables related to ANHD prescription and their relationship with outcomes. [...]
2021 - 10.1016/j.ejim.2021.07.013
European Journal of Internal Medicine, Vol. 94 (december 2021) , p. 73-84
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13 p, 2.2 MB |
Episodic memory dysfunction and hypersynchrony in brain functional networks in cognitively intact subjects and MCI : a study of 379 individuals
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Chino, Brenda (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Cuesta, Pablo (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Pacios, Javier (Universidad Complutense de Madrid. Departamento de Psicología Experimental) ;
de Frutos-Lucas, Jaisalmer (Centro de Investigación Nebrija en Cognición (CINC). Universidad de Nebrija) ;
Torres-Simón, Lucía (Universidad Complutense de Madrid. Departamento de Psicología Experimental) ;
Doval, Sandra (Universidad Complutense de Madrid. Departamento de Psicología Experimental) ;
Marcos, Alberto (Hospital Clínico San Carlos (Madrid)) ;
Bruña, Ricardo (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Maestú, Fernando (Universidad Complutense de Madrid. Departamento de Psicología Experimental)
Delayed recall (DR) impairment is one of the most significant predictive factors in defining the progression to Alzheimer's disease (AD). Changes in brain functional connectivity (FC) could accompany this decline in the DR performance even in a resting state condition from the preclinical stages to the diagnosis of AD itself, so the characterization of the relationship between the two phenomena has attracted increasing interest. [...]
2023 - 10.1007/s11357-022-00656-7
GeroScience, Vol. 45 Num.1 (feb. 2023)
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8 p, 589.3 KB |
Pulmonary exacerbations in patients with primary ciliary dyskinesia : an expert consensus definition for use in clinical trials
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Lucas, Jane S. (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ;
Gahleitner, Florian (University of Southampton) ;
Amorim, Adelina (Porto University) ;
Boon, Mieke (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Brown, Philippa (PCD Family Support Group) ;
Constant, Carolina (Centro Hospitalar Lisboa Norte) ;
Cook, Simon (PCD Family Support Group) ;
Crowley, Suzanne (Oslo University Hospital (Oslo, Noruega)) ;
Destouches, Damien M. S. (Association des Patients Ayant une Dyskinésie Ciliaire Primitive) ;
Eber, Ernst (Medical University of Graz, Graz, Austria) ;
Mussaffi, Huda (Tel Aviv University) ;
Haarman, Eric (Amsterdam UMC. University Medical Center) ;
Harris, Amanda (University of Southampton) ;
Koerner-Rettberg, Cordula (University Children's Hospital of Ruhr University) ;
Kuehni, Claudia E. (University of Bern) ;
Latzin, Philipp (Bern University Hospital) ;
Loebinger, Michael R. (Imperial College London) ;
Lorent, Natalie (University Hospitals Leuven (Bèlgica)) ;
Maitre, Bernard (Université Paris Est-Créteil) ;
Moreno Galdó, Antonio (Hospital Universitari Vall d'Hebron) ;
Nielsen, Kim G. (Copenhagen University Hospital) ;
Özçelik, Uğur (University Medical Faculty (Turquia)) ;
Philipsen, Lue Katrine Drasbæk (Copenhagen University Hospital) ;
Pohunek, Petr (Charles University. Faculty of Medicine in Hradec Králové) ;
Polverino, Eva (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rademacher, Jessica (Hannover Medical School) ;
Robinson, Phil (Royal Children's Hospital) ;
Snijders, Deborah (University of Padova) ;
Yiallouros, Panayiotis (niversity of Cyprus) ;
Carr, Siobhán B. (Imperial College and Royal Brompton Hospital) ;
Universitat Autònoma de Barcelona
Pulmonary exacerbations are a cause of significant morbidity in patients with primary ciliary dyskinesia (PCD) and are frequently used as an outcome measure in clinical research into chronic lung diseases. [...]
2019 - 10.1183/23120541.00147-2018
ERJ Open Research, Vol. 5 (february 2019)
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5 p, 611.5 KB |
Access to medicines for rare diseases : beating the drum for primary ciliary dyskinesia
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Crowley, Suzanne (Oslo University Hospital (Oslo, Noruega)) ;
Azevedo, Ines (Universidade do Porto) ;
Boon, Mieke (University Hospitals Gasthuisberg (Leuven, Bélgica)) ;
Bush, Andrew (Royal Brompton Hospital (Londres)) ;
Eber, Ernst (Medical University of Graz) ;
Haarman, Eric (Amsterdam UMC. University Medical Center) ;
Karadag, Bulent (Marmara University) ;
Kötz, Karsten (Sahlgrenska University Hospital (Suècia)) ;
Leigh, Margaret (University of North Carolina at Chapel Hill) ;
Moreno Galdó, Antonio (Universitat Autònoma de Barcelona) ;
Mussaffi, Huda (Tel Aviv University) ;
Nielsen, Kim G. ;
Omran, Heymut (University Hospital Muenster (Alemanya)) ;
Papon, Jean-François (Hôpital Kremlin-Bicetre) ;
Pohunek, Petr (Charles University. Faculty of Medicine in Hradec Králové) ;
Priftis, Kostas (University General Hospital Attikon (Haidari, Grècia)) ;
Rindlisbacher, Bernhard (Patient Association Kartagener Syndrom und Primäre Ciliäre Dyskinesie e.V., Steffisburg, Switzerland) ;
Santamaria, Francesca (Federico II University) ;
Valiulis, Arunas (European Academy of Paediatrics (Bélgica)) ;
Witt, Michal (Institute of Human Genetics Polish Academy of Sciences(Polònia)) ;
Yiallouros, Panayiotis (University of Cyprus) ;
Zivkovic, Zorica (Novi Sad (Sèrbia)) ;
Kuehni, Claudia E. (University Children's Hospital Bern (Suïssa)) ;
Lucas, Jane S. (University Hospital Southampton NHS Foundation Trust (Regne Unit))
Rare diseases are collectively common, affecting an estimated 6. 2% of the world's population [1], but each rare disease affects fewer than 4 to 5 in 10 000 individuals in Europe or less than 200 000 individuals in the USA [2]. [...]
2020 - 10.1183/23120541.00377-2020
ERJ Open Research, Vol. 6 (september 2020)
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19 p, 1.5 MB |
Preoperative risk stratification in endometrial cancer (ENDORISK) by a Bayesian network model : A development and validation study
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Reijnen, Casper (Radboud University Medical Center) ;
Gogou, Evangelia (Radboud University) ;
Visser, Nicole C. M. (Radboud University Medical Center) ;
Engerud, Hilde (Haukeland University Hospital (Bergen, Noruega)) ;
Ramjith, Jordache (Radboud University Medical Center) ;
van der Putten, Louis J. M. (Radboud University Medical Center) ;
van de Vijver, Koen (Universitair Ziekenhuis Gent) ;
Santacana, Maria (Hospital Arnau de Vilanova (Lleida, Catalunya)) ;
Bronsert, Peter (University Medical Center, Freiburg, Germany) ;
Bulten, Johan (Radboud University Medical Center) ;
Hirschfeld, Marc (University Medical Center, Freiburg, Germany) ;
Colás Ortega, Eva (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ;
Gil-Moreno, Antonio 1965- (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Reques, Armando (Hospital Universitari Vall d'Hebron) ;
Mancebo, Gemma (Hospital del Mar (Barcelona, Catalunya)) ;
Krakstad, Camilla (Haukeland University Hospital (Bergen, Noruega)) ;
Trovik, Jone (Haukeland University Hospital (Bergen, Noruega)) ;
Haldorsen, Ingfrid S. (University of Bergen) ;
Huvila, Jutta (University of Turku) ;
Koskas, Martin (Bichat-Claude Bernard Hospital, Paris) ;
Weinberger, Vit (University Hospital Brno (República Txeca)) ;
Bednarikova, Marketa (University Hospital Brno (República Txeca)) ;
Hausnerova, Jitka (University Hospital Brno (República Txeca)) ;
van der Wurff, Anneke A. M. (Elisabeth-TweeSteden Hospital, Tilburg) ;
Matias-Guiu, Xavier (Hospital Arnau de Vilanova (Lleida, Catalunya)) ;
Amant, Frederic (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Massuger, Leon F. A. G. (Radboud University Medical Center) ;
Snijders, Marc P. L. M. (Canisius-Wilhelmina Hospital) ;
Küsters-Vandevelde, Heidi V. N. (Canisius-Wilhelmina Hospital) ;
Lucas, Peter J. F. (University of Twente) ;
Pijnenborg, Johanna M. A. (Radboud University Medical Center)
Bayesian networks (BNs) are machine-learning-based computational models that visualize causal relationships and provide insight into the processes underlying disease progression, closely resembling clinical decision-making. [...]
2020 - 10.1371/journal.pmed.1003111
PLoS Medicine, Vol. 17 (may 2020)
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28 p, 2.6 MB |
Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript
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Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Castellano Esteve, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Pantano, Lorena (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Giner-Delgado, Carla (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Izquierdo Fontanills, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Gayà Vidal, Magdalena (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Lucas Lledó, José Ignacio (Universitat de València. Institut Cavanilles de Biodiversitat i Biologia Evolutiva) ;
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 (Universitat Autònoma de Barcelona. 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
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