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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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17 p, 2.4 MB |
Quasispecies Fitness Partition to Characterize the Molecular Status of a Viral Population. Negative Effect of Early Ribavirin Discontinuation in a Chronically Infected HEV Patient
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Gregori i Font, Josep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Colomer-Castell, Sergi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Campos, Carolina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ibañez-Lligoña, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Garcia-Cehic, D. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rando-Segura, Ariadna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Adombie, Caroline Melanie (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pintó, Rosa (Universitat de Barcelona) ;
Guix, Susana (Universitat de Barcelona) ;
Bosch, Albert (Universitat de Barcelona) ;
Domingo, Esteban (Instituto de Salud Carlos III) ;
Gallego, Isabel (Centro de Biología Molecular Severo Ochoa) ;
Perales Viejo, Celia (Universidad Autónoma de Madrid) ;
Cortese, Maria Francesca (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tabernero, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Buti, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Riveiro Barciela, Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Esteban Mur, Juan Ignacio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodríguez Frías, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Quer, Josep 1963- (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
The changes occurring in viral quasispecies populations during infection have been monitored using diversity indices, nucleotide diversity, and several other indices to summarize the quasispecies structure in a single value. [...]
2022 - 10.3390/ijms232314654
International journal of molecular sciences, Vol. 23 (november 2022)
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11 p, 1.6 MB |
Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia
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Guardiola-Ripoll, Maria (Centro de Investigación Biomédica en Red de Salud Mental) ;
Sotero-Moreno, Alejandro (FIDMAG Germanes Hospitalàries Research Foundation) ;
Almodóvar-Payá, Carmen (Centro de Investigación Biomédica en Red de Salud Mental) ;
Hostalet, Noemí (FIDMAG Germanes Hospitalàries Research Foundation) ;
Guerrero-Pedraza, Amalia (Benito Menni, Complejo Asistencial en Salud Mental) ;
Ramiro, Núria (Hospital San Rafael (Barcelona, Catalunya)) ;
Ortiz-Gil, Jordi (Hospital General de Granollers. Unitat de Psicologia) ;
Arias, Barbara (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ;
Madre Rull, Mercè (Institut d'Investigació Biomèdica Sant Pau) ;
Soler-Vidal, Joan (Benito Menni, Complejo Asistencial en Salud Mental) ;
Salvador, Raymond (Centro de Investigación Biomédica en Red de Salud Mental) ;
McKenna, Peter J. (Centro de Investigación Biomédica en Red de Salud Mental) ;
Pomarol-Clotet, Edith (Centro de Investigación Biomédica en Red de Salud Mental) ;
Fatjó-Vilas, Mar (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals)
The DISC1 gene is one of the most relevant susceptibility genes for psychosis. However, the complex genetic landscape of this locus, which includes protective and risk variants in interaction, may have hindered consistent conclusions on how DISC1 contributes to schizophrenia (SZ) liability. [...]
2022 - 10.1038/s41598-022-10660-8
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 7351
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10 p, 1012.4 KB |
Unravelling the genetics of non-random fertilization associated with gametic incompatibility
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Martin, Audrey A. A. (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Id-Lahoucine, Samir (Scotland's Rural College. Department of Animal and Veterinary Sciences) ;
Fonseca, Pablo A. S. (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Rochus, Christina M. (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Alcantara, Lucas M. (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Tulpan, Dan (University of Guelph. Centre for Genetic Improvement of Livestock) ;
LeBlanc, Stephen J. (Ontario Veterinary College, University of Guelph) ;
Miglior, Filippo (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Cánovas, Angela (University of Guelph. Centre for Genetic Improvement of Livestock) ;
Baes, Christine F. (University of Bern. Institute of Genetics, Vetsuisse Faculty) ;
Schenkel, Flavio S. (University of Guelph. Centre for Genetic Improvement of Livestock)
In the dairy industry, mate allocation is dependent on the producer's breeding goals and the parents' breeding values. The probability of pregnancy differs among sire-dam combinations, and the compatibility of a pair may vary due to the combination of gametic haplotypes. [...]
2022 - 10.1038/s41598-022-26910-8
Scientific reports, Vol. 12 (december 2022)
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11 p, 1.1 MB |
Sophisticated viral quasispecies with a genotype-related pattern of mutations in the hepatitis B X gene of HBeAg-ve chronically infected patients
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Cortese, Maria Francesca (Hospital Universitari Vall d'Hebron) ;
González, Carolina (Hospital Universitari Vall d'Hebron) ;
Gregori i Font, Josep (Roche Diagnostics (Sant Cugat)) ;
Casillas, Rosario (Hospital Universitari Vall d'Hebron) ;
Carioti, Luca (University of Rome Tor Vergata) ;
Guerrero Murillo, Mercedes (Hospital Universitari Vall d'Hebron) ;
Riveiro Barciela, Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Godoy, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sopena, Sara (Hospital Universitari Vall d'Hebron) ;
Yll, Marçal (Hospital Universitari Vall d'Hebron) ;
Quer, Josep 1963- (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rando-Segura, Ariadna (Hospital Universitari Vall d'Hebron) ;
Lopez-Martinez, Rosa (Hospital Universitari Vall d'Hebron) ;
Pacín Ruiz, Beatriz (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-García, Selene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Esteban, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tabernero, David (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Buti, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodríguez Frías, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Patients with HBeAg-negative chronic infection (CI) have not been extensively studied because of low viremia. The HBx protein, encoded by HBX, has a key role in viral replication. Here, we analyzed the viral quasispecies at the 5' end of HBX in CI patients and compared it with that of patients in other clinical stages. [...]
2021 - 10.1038/s41598-021-83762-4
Scientific reports, Vol. 11 (february 2021)
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14 p, 1015.4 KB |
Discovering lethal alleles across the turkey genome using a transmission ratio distortion approach
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Abdalla, E. A. (University of Guelph) ;
Id-Lahoucine, Samir (University of Guelph) ;
Cánovas, Angela (University of Guelph) ;
Casellas Vidal, Joaquim (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Schenkel, Flavio S (University of Guelph) ;
Wood, B. J. (University of Queensland) ;
Baes, Christine F (University of Bern)
Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) has been observed in several species, including the mouse and humans. In this study, TRD was characterized in the turkey genome using both allelic (specific- and unspecific-parent TRD) and genotypic (additive- and dominance-TRD) parameterizations within a Bayesian framework. [...]
2020 - 10.1111/age.13003
Animal Genetics, Vol. 51 (october 2020) , p. 876-889
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8 p, 69.1 KB |
Estimating the frequency of Asian cytochrome B haplotypes in standard European and local Spanish pig breeds
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Clop, Alex (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Amills i Eras, Marcel (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Noguera, José Luis ;
Fernández, Ana ;
Capote, Juan ;
Ramón, Maria Misericòrdia ;
Kelly, Lucía ;
Kijas, James M. H. ;
Andersson, Leif ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Mitochondrial DNA has been widely used to perform phylogenetic studies in different animal species. In pigs, genetic variability at the cytochrome B gene and the D-loop region has been used as a tool to dissect the genetic relationships between different breeds and populations. [...]
2004 - 10.3201/eid0910.030179
Genetics, selection, evolution, Vol. 36 (1 2004) , p. 97-104
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14 p, 384.0 KB |
The Interaction between Childhood Bullying and the FKBP5 Gene on Psychotic-Like Experiences and Stress Reactivity in Real Life
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Cristóbal Narváez, Paula (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Sheinbaum Frank, Tamara (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Rosa, Araceli (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ;
Ballespí Sola, Sergi (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
De Castro-Catala, Marta (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ;
Peña, Elionora (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ;
Kwapil, Thomas (University of North Carolina at Greensboro. Department of Psychology) ;
Barrantes-Vidal, Neus (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut)
Aim: The present study employed Experience Sampling Methodology to examine whether the interaction between childhood bullying and FKBP5 variability (i) is associated with the expression of psychotic-like experiences, paranoia, and negative affect, and (ii) moderates psychotic-like, paranoid, and affective reactivity to different forms of momentary stress (situational and social) in daily life. [...]
2016 - 10.1371/journal.pone.0158809
PloS one, Vol. 11, Num. 7 (July 2016) , p. 1-14
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16 p, 742.2 KB |
Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence
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Aguado, Cristina (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") ;
Villatoro, Sergi (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Oliva Pavia, Meritxell (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Izquierdo Fontanills, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Giner-Delgado, Carla (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Montalvo, Víctor (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
García González, Judit (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Martínez Fundichely, Alexander (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Capilla Pérez, Laia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Ruiz-Herrera Moreno, Aurora (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Estivill, Xavier (Centre de Regulació Genòmica) ;
Puig Font, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Cáceres Aguilar, Mario, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult to study, especially those mediated by inverted repeats or segmental duplications. [...]
2014 - 10.1371/journal.pgen.1004208
PLoS Genetics, Vol. 10, Issue 3 (March 2014) , p. e1004151
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