المؤلفون: Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, NIHR BioResource, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/3/232Test; http://dx.doi.org/10.1136/jmg-2023-109329Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109329Test
http://jmg.bmj.com/cgi/content/short/61/3/232Test

المؤلفون: Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J., Miedzybrodzka, Zosia

المصدر: Hocking , L J , Andrews , C , Armstrong , C , Ansari , M , Baty , D , Berg , J , Bradley , T , Clark , C , Diamond , A , Doherty , J , Lampe , A , McGowan , R , Moore , D J , O'Sullivan , D , Purvis , A , Santoyo-Lopez , J , Westwood , P , Abbott , M , Williams , N & Aitman , T J & Miedzybrodzka , Z 2023 , ' Genome sequencing with gene panel-based analysis for rare inherited conditions ....

مصطلحات موضوعية: Diagnostic markers, Genetics testing, Health policy

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/b2cc2a61-f334-4e28-87e7-3eff03751b8aTest

الإتاحة: https://doi.org/10.1038/s41431-022-01226-3Test
https://discovery.dundee.ac.uk/en/publications/b2cc2a61-f334-4e28-87e7-3eff03751b8aTest
https://discovery.dundee.ac.uk/ws/files/92725048/s41431_022_01226_3.pdfTest
http://www.scopus.com/inward/record.url?scp=85143493136&partnerID=8YFLogxKTest

المؤلفون: Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Scottish Genomes Partnership, Aitman, Timothy J., Miedzybrodzka, Zosia

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/288195/1/288195.pdfTest; Hocking, L. J. et al. (2023) Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European Journal of Human Genetics , 31(2), pp. 231-238. (doi:10.1038/s41431-022-01226-3 ) (PMID:36474026) (PMCID:PMC9905562)

الإتاحة: https://doi.org/10.1038/s41431-022-01226-3Test
https://eprints.gla.ac.uk/288195Test/
https://eprints.gla.ac.uk/288195/1/288195.pdfTest

المؤلفون: Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

المصدر: Journal of Medical Genetics , 61 (3) pp. 232-238. (2023)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187829/1/232.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187829Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187829/1/232.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187829Test/

المؤلفون: Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O’Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Meynert, Alison, Murphy, Fiona, Nourse, Craig, Semple, Colin A., Dean, John, Foley, Patricia, Robertson, Lisa, Ross, Alison, Williamson, Karen, Goudie, David, McWilliam, Catherine, Fitzpatrick, David, Fletcher, Elaine, Jackson, Andrew, Lam, Wayne, Porteous, Mary, Barr, Kate, Bradshaw, Nicola, Davidson, Rosemarie, Gardiner, Carol, Gorrie, Jennifer, Hague, Rosie, Hamilton, Mark, Joss, Shelagh

المساهمون: Chief Scientist Office, RCUK | Medical Research Council, DH | NIHR | Service Delivery and Organisation Programme, Wellcome Trust, Cancer Research UK

المصدر: European Journal of Human Genetics ; volume 31, issue 2, page 231-238 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-022-01226-3Test
https://www.nature.com/articles/s41431-022-01226-3.pdfTest
https://www.nature.com/articles/s41431-022-01226-3Test

المؤلفون: Madrid-Elena, Nadia, Serrano-Villar, Sergio, Gutiérrez, Carolina, Sastre, Beatriz, Morín, Matías, Luna, Laura, Martín, Laura, Santoyo-López, Javier, López-Huertas, María Rosa, Moreno, Elena, García-Bermejo, María Laura, Moreno-Pelayo, Miguel Ángel, Moreno, Santiago

المساهمون: Instituto de Salud Carlos III

المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.3389/fimmu.2022.998368Test

المؤلفون: González del Pozo, María, Méndez Vidal, Cristina, Santoyo-López, Javier, Vela-Boza, Alicia, Bravo Gil, Nereida Inés, Rueda, Antonio, Antiñolo Gil, Guillermo

المساهمون: Universidad de Sevilla. Departamento de Cirugía

مصطلحات موضوعية: Bardet–Biedl Syndrome, Intrafamilial variability, MKKS, NGS, NPHP4

العلاقة: Molecular Genetics and Genomic Medicine, 2 (2); PI1102923; CTS-03687; PI100154; PCT-30000-2009-12; PCT-300000-2010-007; CIVP16A1856; BIO2011-27069; PROMETEO/2010/001; https://idus.us.es/handle//11441/108807Test

الإتاحة: https://idus.us.es/handle//11441/108807Test

المؤلفون: 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

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Bases de dades, Població, Espanya, Genètica de poblacions humanes, Databases, Population, Spain, Human population genetics

وصف الملف: 1 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1093/nar/gkaa794Test; Nucleic Acids Research, 2021, vol. 49, num. D1, p. D1130-D1137; https://doi.org/10.1093/nar/gkaa794Test; http://hdl.handle.net/2445/195162Test; 704141

الإتاحة: https://doi.org/10.1093/nar/gkaa794Test
http://hdl.handle.net/2445/195162Test

المؤلفون: 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-Garcia, 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, Carracedo, Ángel, Alonso, Ángel, Dopazo, Joaquín

المساهمون: 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 .

مصطلحات موضوعية: Databases, genetic, Genetic variation, Gene frequency, Crowdsourcing, Genetics, population, Bases de datos genéticas, Variación genética, Frecuencia génica, Participación colectiva, Genética de poblaciones, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, 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 Structures::Genome::Exome, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation, Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetics, Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Spain, Medical Subject Headings::Information Science::Information Science::Data Collection::Crowdsourcing, Medical Subject Headings::Information Science::Information Science::Information Storage and Retrieval::Databases as Topic::Databases, Factual::Databases, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome, Human

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

العلاقة: https://academic.oup.com/nar/article/49/D1/D1130/5912819?login=trueTest; Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137; http://hdl.handle.net/10668/4371Test; PMC7778906

الإتاحة: https://doi.org/10.1093/nar/gkaa794Test
http://hdl.handle.net/10668/4371Test

المؤلفون: Parry, David A., Tamayo-Orrego, Lukas, Carroll, Paula, Marsh, Joseph A., Greene, Philip, Murina, Olga, Uggenti, Carolina, Leitch, Andrea, The Scottish Genomes Partnership, Káposzta, Rita, Mero, Gabriella, Nagy, Andrea, Orlik, Brigitta, Kovács-Pászthy, Balázs, Quigley, Alan J., Riszter, Magdolna, Rankin, Julia, Reijns, Martin A.M., Szakszon, Katalin, Jackson, Andrew P., Members of the Scottish Genome Partnership include, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Nourse, Craig, Santoyo-Lopez, Javier, Semple, Colin A., Williams, Nicola

مصطلحات موضوعية: Research Papers

وصف الملف: text/html

العلاقة: http://genesdev.cshlp.org/cgi/content/short/34/21-22/1520Test; http://dx.doi.org/10.1101/gad.340190.120Test

الإتاحة: https://doi.org/10.1101/gad.340190.120Test
http://genesdev.cshlp.org/cgi/content/short/34/21-22/1520Test