Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
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| Title: | Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants. |
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| Authors: | Pinsach-Abuin ML; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Del Olmo B; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Pérez-Agustin A; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Mates J; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Allegue C; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Iglesias A; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain., Ma Q; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Merkurjev D; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Statistics, University of California, Los Angeles, Los Angeles, CA, USA., Konovalov S; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Zhang J; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Sheikh F; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Telenti A; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA., Brugada J; Arrhythmia Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, Barcelona, Spain., Brugada R; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.; Cardiology Service, Hospital Universitari Dr. Josep Trueta, Girona, Spain., Gymrek M; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA., di Iulio J; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA., Garcia-Bassets I; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Pagans S; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain. |
| Source: | Cell reports. Medicine [Cell Rep Med] 2021 Apr 20; Vol. 2 (4), pp. 100250. Date of Electronic Publication: 2021 Apr 20 (Print Publication: 2021). |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33948580 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pinsach-Abuin+ML%22">Pinsach-Abuin ML</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Del+Olmo+B%22">Del Olmo B</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez-Agustin+A%22">Pérez-Agustin A</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mates+J%22">Mates J</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Allegue+C%22">Allegue C</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Visiting Scholar Program, Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Iglesias+A%22">Iglesias A</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Ma+Q%22">Ma Q</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Merkurjev+D%22">Merkurjev D</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Statistics, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Konovalov+S%22">Konovalov S</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+J%22">Zhang J</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sheikh+F%22">Sheikh F</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Telenti+A%22">Telenti A</searchLink>; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Brugada+J%22">Brugada J</searchLink>; Arrhythmia Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Brugada+R%22">Brugada R</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain.; Cardiology Service, Hospital Universitari Dr. Josep Trueta, Girona, Spain.<br /><searchLink fieldCode="AU" term="%22Gymrek+M%22">Gymrek M</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22di+Iulio+J%22">di Iulio J</searchLink>; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Garcia-Bassets+I%22">Garcia-Bassets I</searchLink>; Department of Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pagans+S%22">Pagans S</searchLink>; Department of Medical Sciences, School of Medicine, Universitat de Girona, Girona, Spain.; Institut d'Investigació Biomèdica de Girona, Salt, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, Madrid, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101766894%22">Cell reports. Medicine</searchLink> [Cell Rep Med] 2021 Apr 20; Vol. 2 (4), pp. 100250. <i>Date of Electronic Publication: </i>2021 Apr 20 (<i>Print Publication: </i>2021). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101766894 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-3791 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226663791%22">26663791 </searchLink><i>NLM ISO Abbreviation: </i>Cell Rep Med |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.xcrm.2021.100250 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 100250 Titles: – TitleFull: Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pinsach-Abuin ML – PersonEntity: Name: NameFull: Del Olmo B – PersonEntity: Name: NameFull: Pérez-Agustin A – PersonEntity: Name: NameFull: Mates J – PersonEntity: Name: NameFull: Allegue C – PersonEntity: Name: NameFull: Iglesias A – PersonEntity: Name: NameFull: Ma Q – PersonEntity: Name: NameFull: Merkurjev D – PersonEntity: Name: NameFull: Konovalov S – PersonEntity: Name: NameFull: Zhang J – PersonEntity: Name: NameFull: Sheikh F – PersonEntity: Name: NameFull: Telenti A – PersonEntity: Name: NameFull: Brugada J – PersonEntity: Name: NameFull: Brugada R – PersonEntity: Name: NameFull: Gymrek M – PersonEntity: Name: NameFull: di Iulio J – PersonEntity: Name: NameFull: Garcia-Bassets I – PersonEntity: Name: NameFull: Pagans S IsPartOfRelationships: – BibEntity: Dates: – D: 20 M: 04 Text: 2021 Apr 20 Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 2666-3791 Numbering: – Type: volume Value: 2 – Type: issue Value: 4 Titles: – TitleFull: Cell reports. Medicine Type: main |
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