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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Porubsky, David; Höps, Wolfram; Ashraf, Hufsah; Hsieh, PingHsun; Rodriguez-Martin, Bernardo; Yilmaz, Feyza; Ebler, Jana; Hallast, Pille; Maria Maggiolini, Flavia Angela; Harvey, William T; Henning, Barbara; Audano, Peter A; Gordon, David S; Ebert, Peter; Hasenfeld, Patrick; Benito, Eva; Zhu, Qihui; Lee, Charles; Antonacci, Francesca; Steinrücken, Matthias; Beck, Christine R; Sanders, Ashley D; Marschall, Tobias; Eichler, Evan E; Korbel, Jan O.
Afiliación
  • Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Höps W; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
  • Ashraf H; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
  • Hsieh P; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Rodriguez-Martin B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
  • Yilmaz F; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Ebler J; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
  • Hallast P; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Maria Maggiolini FA; Department of Biology, University of Bari "Aldo Moro", 70125 Bari, Italy; Consiglio per la Ricerca in Agricoltura e l'Analisi dell'Economia Agraria-Centro di Ricerca Viticoltura ed Enologia (CREA-VE), Via Casamassima 148, 70010 Turi, Italy.
  • Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Henning B; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Audano PA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Gordon DS; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
  • Ebert P; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany.
  • Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
  • Benito E; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany.
  • Zhu Q; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Lee C; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Antonacci F; Department of Biology, University of Bari "Aldo Moro", 70125 Bari, Italy.
  • Steinrücken M; Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Beck CR; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA; The University of Connecticut Health Center, 400 Farmington Rd., Farmington, CT 06032, USA.
  • Sanders AD; Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany; Charité-Universitätsmedizin, Berlin, Berlin, Germany.
  • Marschall T; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 5, 40225 Düsseldorf, Germany. Electronic address: tobias.marschall@hhu.de.
  • Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. Electronic address: eee@gs.washington.edu.
  • Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstr. 1, 69117 Heidelberg, Germany; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK. Electronic address: jan.korbel@embl.org.
Cell ; 185(11): 1986-2005.e26, 2022 05 26.
Article en En | MEDLINE | ID: mdl-35525246
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Duplicaciones Segmentarias en el Genoma / Inversión Cromosómica Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Duplicaciones Segmentarias en el Genoma / Inversión Cromosómica Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos