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7 results on '"Gallego, Asunción"'

1. CSVS, a crowdsourcing database of the Spanish population genetic variability

Author

Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, Universidad Autónoma de Madrid, Fundación Ramón Areces, Peña-Chilet, María, Roldán, Gema, Pérez-Florido, Javier, Ortuño, Francisco M., Carmona, Rosario, Aquino, Virginia, López-López, Daniel, Loucera, Carlos, Fernández-Rueda, José L., Gallego, Asunción, García-García, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Mínguez, Pablo, Ávila-Fernández, Almudena, Cortón, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Álvaro, López-Escamez, José A., Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sánchez, Sara, Morte, Beatriz, Spanish Exome Crowdsourcing Consortium, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín, Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, Universidad Autónoma de Madrid, Fundación Ramón Areces, Peña-Chilet, María, Roldán, Gema, Pérez-Florido, Javier, Ortuño, Francisco M., Carmona, Rosario, Aquino, Virginia, López-López, Daniel, Loucera, Carlos, Fernández-Rueda, José L., Gallego, Asunción, García-García, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Mínguez, Pablo, Ávila-Fernández, Almudena, Cortón, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Álvaro, López-Escamez, José A., Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sánchez, Sara, Morte, Beatriz, Spanish Exome Crowdsourcing Consortium, Carracedo, Ángel, Alonso, Ángel, and Dopazo, Joaquín

Abstract

The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/.

Published
2021

2. CSVS, a crowdsourcing database of the Spanish population genetic variability

Author

Peña-Chilet, María, Roldán Gema, Perez-Florido, Javier, Ortuño, Francisco M., Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L., Gallego, Asunción, García-García, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A., Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, The Spanish Exome Crowdsourcing Consortium, Carracedo Álvarez, Ángel, Alonso, Ángel, Dopazo, Joaquín, Grinberg Vaisman, Daniel Raúl, [Peña-Chilet,M, Roldán,G, Perez-Florido,J, Ortuño,FM, Carmona,R, Aquino,V, Lopez-Lopez,D, Loucera,C, Fernandez-Rueda,JL, Dopazo,J] Clinical Bioinformatics Area, Fundacion Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla, Spain. [Peña-Chilet,M, Dopazo,J] Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla, Spain. [Peña-Chilet,M, Dopazo,J] Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla, Spain. [Perez-Florido,J, Dopazo,J] Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Rocío, Sevilla, Spain. [Gallego,A] Sistemas Genomicos, Paterna, Valencia, Spain. [García-Garcia,F] Unidad de Bioinformatica y Bioestadística, Centro de Investigacion Príncipe Felipe (CIPF), Valencia, Spain. [González-Neira,A, Pita,G, Núñez-Torres,R] Human Genotyping Unit–Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [Santoyo-López,J] Edinburgh Genomics, The University of Edinburgh, Edinburgh, UK. [Ayuso,C, Minguez,P, Avila-Fernandez,A, Corton,M] Department of Genetics, Instituto de Investigacion Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain. [Minguez,P] Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. [Moreno-Pelayo,MÁ, Morin,M] Servicio de Genetica, Ramón y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain, [Gallego-Martinez,A, Lopez-Escamez,JA] Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada, Spain. [Gallego-Martinez,A, Lopez-Escamez,JA] Department of Otolaryngology, Instituto de Investigacion Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain. [Borrego,S, Antiñolo,G] Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío /CSIC/University of Seville, Seville, Spain. [Borrego,S, Antiñolo,G] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain. [Amigo,J, Carracedo,Á] Fundacion Pública Galega de Medicina Xenómica, SERGAS, IDIS, Santiago de Compostela, Spain. [Salgado-Garrido,J, Pasalodos-Sanchez,S, Alonso,Á] Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad Publica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra, Spain. [Morte,B] Undiagnosed Rare Diseases Programme (ENoD). Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. [Carracedo,Á] Grupo de Medicina Xenomica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, Santiago de Compostela, España., Spanish Ministry of Economy and Competitiveness [SAF2017-88908-R, PT17/0009/0006 to J.D., PI19/00321 and CIBERER ACCI-06/07/0036 to C.A., PI14-948, PI17-1659 and CIBERER ACCI-06/07/0036 to M.A.M.P.], Regional Government of Madrid, RAREGenomics CM [B2017/BMD-3721 to C.A. and B2017/BMD3721 to M.A.M.P.], all co-funded with European Regional Development Funds (ERDF) as well as EU H2020-INFRADEV-1-2015-1 ELIXIR-EXCELERATE [676559], University Chair UAM-IIS-FJD of Genomic Medicine and the Ramon Areces Foundation also supported this work. Funding for open access charge: Spanish Ministry of Economy and Competitiveness [SAF2017-88908-R]., Ministerio de Economía, Industria y Competitividad (España), Comunidad de Madrid, European Commission, Fundación Ramón Areces, Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), and Universidad Autónoma de Madrid

Subjects
Genetics, population, Població, AcademicSubjects/SCI00010, computer.software_genre, Bases de dades, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Gene Frequency, Genética de poblaciones, Databases, Genetic, Database Issue, Exome, Precision Medicine, 0303 health sciences, education.field_of_study, Database, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetics, Population [Medical Subject Headings], Chromosome Mapping, Genomics, Bases de datos genéticas, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome, Human [Medical Subject Headings], 3. Good health, Databases, genetic, Information Science::Information Science::Data Collection::Crowdsourcing [Medical Subject Headings], Crowdsourcing, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Chromosome Mapping::Physical Chromosome Mapping [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings], Participación colectiva, Population, Proveïment participatiu, Biology, Variación genética, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Genètica de poblacions humanes, 03 medical and health sciences, Databases, Information Science::Information Science::Information Storage and Retrieval::Databases as Topic::Databases, Factual::Databases, Genetic [Medical Subject Headings], Genetic variation, Genetics, Humans, Genetic variability, Espanya, education, Allele frequency, Alleles, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], 030304 developmental biology, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], Internet, Genoma humà -- Espanya, business.industry, Genome, Human, Genetic Variation, Human population genetics, Gene frequency, Frecuencia génica, Genetics, Population, Spain, Personalized medicine, business, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings], computer, 030217 neurology & neurosurgery, Imputation (genetics), Software
Abstract

The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variabilityworldwide. CSVS is also part of the GA4GH Beacon network., Spanish Ministry of Economy and Competitiveness SAF2017-88908-R PT17/0009/0006 PI19/00321 CIBERER ACCI-06/07/0036 PI14-948 PI171659, Regional Government of Madrid, RAREGenomicsCM B2017/BMD3721 B2017/BMD-3721, European Union (EU), European Union (EU) 676559, University Chair UAM-IIS-FJD of Genomic Medicine, Ramon Areces Foundation

Published
2020

3. VISMapper: Ultra-fast exhaustive cartography of viral insertion sites for gene therapy

Author

Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Juanes, José M., Gallego, Asunción, Tárraga, Joaquín, Chaves, Felipe J., Marin-Garcia, Pablo, Medina, Ignacio, Arnau, Vicente, Dopazo, Joaquín, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Juanes, José M., Gallego, Asunción, Tárraga, Joaquín, Chaves, Felipe J., Marin-Garcia, Pablo, Medina, Ignacio, Arnau, Vicente, and Dopazo, Joaquín

Abstract

[Background] The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy. However, viral integration has associated risks, such as the unintentional activation of oncogenes that can result in cancer. Therefore, the analysis of integration sites of retroviral vectors is a crucial step in developing safer vectors for therapeutic use., [Results] Here we present VISMapper, a vector integration site analysis web server, to analyze next-generation sequencing data for retroviral vector integration sites. VISMapper can be found at: http://vismapper.babelomics.org ., [Conclusions] Because it uses novel mapping algorithms VISMapper is remarkably faster than previous available programs. It also provides a useful graphical interface to analyze the integration sites found in the genomic context.

Published
2017

6. Textos de didáctica de la lengua y la literatura

Author

Quintero Gallego, Asunción and Hernández Martín, Azucena

Subjects
profesor, comprensión del texto, lectura, enseñanza
Abstract

La publicación recoge resumen en Inglés ¿Qué concepto tiene el profesorado de la lectura de sus alumnos y qué actividades realizan para conseguir buenos lectores? ¿Qué opinan aceraca de la lectura de sus alumnos y cómo piensan que podría mejorarse? En este artículo presentamos los resultados de un cuestionario aplicado a profesores de diversos centros de educación primaria y secundaria de Salamanca con el objetivo de dar algunas respuestas a estos interrogantes. Cataluña Biblioteca de Educación del Ministerio de Educación, Cultura y Deporte; Calle San Agustín, 5 – 3 Planta; 28014 Madrid; Tel. +34917748000; biblioteca@mecd.es ESP

Published
1999

7. CSVS, a crowdsourcing database of the Spanish population genetic variability.

Author

Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Carracedo Á, Alonso Á, and Dopazo J

Subjects
Alleles, Chromosome Mapping, Exome, Gene Frequency, Genetic Variation, Genomics, Humans, Internet, Precision Medicine methods, Spain, Crowdsourcing, Databases, Genetic, Genetics, Population methods, Genome, Human, Software
Abstract

The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has been revealed as a critical factor for the discovery of new disease variants. Here, we present the Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated in a collaborative crowdsourcing effort collecting sequencing data produced by local genomic projects and for other purposes. Sequences have been grouped by ICD10 upper categories. A web interface allows querying the database removing one or more ICD10 categories. In this way, aggregated counts of allele frequencies of the pseudo-control Spanish population can be obtained for diseases belonging to the category removed. Interestingly, in addition to pseudo-control studies, some population studies can be made, as, for example, prevalence of pharmacogenomic variants, etc. In addition, this genomic data has been used to define the first Spanish Genome Reference Panel (SGRP1.0) for imputation. This is the first local repository of variability entirely produced by a crowdsourcing effort and constitutes an example for future initiatives to characterize local variability worldwide. CSVS is also part of the GA4GH Beacon network. CSVS can be accessed at: http://csvs.babelomics.org/., (© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.)

Published
2021
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