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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao, Xuefang; Collins, Ryan L; Lee, Wan-Ping; Weber, Alexandra M; Jun, Yukyung; Zhu, Qihui; Weisburd, Ben; Huang, Yongqing; Audano, Peter A; Wang, Harold; Walker, Mark; Lowther, Chelsea; Fu, Jack; Gerstein, Mark B; Devine, Scott E; Marschall, Tobias; Korbel, Jan O; Eichler, Evan E; Chaisson, Mark J P; Lee, Charles; Mills, Ryan E; Brand, Harrison; Talkowski, Michael E.
Afiliação
  • Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massac
  • Collins RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Division of Medical Sciences, H
  • Lee WP; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
  • Weber AM; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, 1241 East Catherine Street, Ann Arbor, MI 48109, USA.
  • Jun Y; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
  • Zhu Q; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
  • Weisburd B; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
  • Huang Y; Data Sciences Platform, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
  • Audano PA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
  • Wang H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
  • Walker M; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
  • Lowther C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massac
  • Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massac
  • Gerstein MB; Yale University Medical School, Computational Biology and Bioinformatics Program, New Haven, CT 06520, USA.
  • Devine SE; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • Marschall T; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.
  • Korbel JO; European Molecular Biology Laboratory, Genome Biology Unit, 69117 Heidelberg, Germany; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
  • Chaisson MJP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
  • Lee C; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Department of Graduate Studies - Life Sciences, Ewha Womans University, 52, Ewhayeodae-gil, Seodaemun-gu, Seoul 03760, South Korea; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West
  • Mills RE; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, 1241 East Catherine Street, Ann Arbor, MI 48109, USA.
  • Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massac
  • Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Disorders, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA; Department of Neurology, Massac
Am J Hum Genet ; 108(5): 919-928, 2021 05 06.
Article em En | MEDLINE | ID: mdl-33789087
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Genômica / Variação Estrutural do Genoma / Sequenciamento Completo do Genoma / Objetivos Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Genômica / Variação Estrutural do Genoma / Sequenciamento Completo do Genoma / Objetivos Tipo de estudo: Clinical_trials / Diagnostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos