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A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Hehir-Kwa, Jayne Y; Marschall, Tobias; Kloosterman, Wigard P; Francioli, Laurent C; Baaijens, Jasmijn A; Dijkstra, Louis J; Abdellaoui, Abdel; Koval, Vyacheslav; Thung, Djie Tjwan; Wardenaar, René; Renkens, Ivo; Coe, Bradley P; Deelen, Patrick; de Ligt, Joep; Lameijer, Eric-Wubbo; van Dijk, Freerk; Hormozdiari, Fereydoun; Uitterlinden, André G; van Duijn, Cornelia M; Eichler, Evan E; de Bakker, Paul I W; Swertz, Morris A; Wijmenga, Cisca; van Ommen, Gert-Jan B; Slagboom, P Eline; Boomsma, Dorret I; Schönhuth, Alexander; Ye, Kai; Guryev, Victor.
Afiliação
  • Hehir-Kwa JY; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.
  • Marschall T; Center for Bioinformatics, Saarland University, Saarbrücken 66123, Germany.
  • Kloosterman WP; Max Plank Institute for Informatics, Saarbrücken 66123, Germany.
  • Francioli LC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
  • Baaijens JA; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
  • Dijkstra LJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Abdellaoui A; The Broad Institute, Cambridge, Massachusetts 02142, USA.
  • Koval V; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.
  • Thung DT; Life Sciences Group, Centrum Wiskunde &Informatica, Amsterdam 1098XG, The Netherlands.
  • Wardenaar R; Life Sciences Group, Centrum Wiskunde &Informatica, Amsterdam 1098XG, The Netherlands.
  • Renkens I; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam 1081BT, The Netherlands.
  • Coe BP; Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands.
  • Deelen P; Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.
  • de Ligt J; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen 9713AD, The Netherlands.
  • Lameijer EW; Groningen Bioinformatics Centre, University of Groningen, Groningen 9747AG, The Netherlands.
  • van Dijk F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
  • Hormozdiari F; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA.
  • Uitterlinden AG; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
  • van Duijn CM; Department of Human Genetics, Leiden University Medical Center, Leiden 2300RC, The Netherlands.
  • Eichler EE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen 9700RB, The Netherlands.
  • de Bakker PI; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen 9700RB, The Netherlands.
  • Swertz MA; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA.
  • van Ommen GB; Department of Internal Medicine, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands.
  • Slagboom PE; Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands.
  • Boomsma DI; Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000CA, The Netherlands.
  • Schönhuth A; Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle 98105, USA.
  • Ye K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, The Netherlands.
  • Guryev V; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584CG, The Netherlands.
Nat Commun ; 7: 12989, 2016 10 06.
Article em En | MEDLINE | ID: mdl-27708267
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Genômica / Variação Estrutural do Genoma Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Genômica / Variação Estrutural do Genoma Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article