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Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert, Peter; Audano, Peter A; Zhu, Qihui; Rodriguez-Martin, Bernardo; Porubsky, David; Bonder, Marc Jan; Sulovari, Arvis; Ebler, Jana; Zhou, Weichen; Serra Mari, Rebecca; Yilmaz, Feyza; Zhao, Xuefang; Hsieh, PingHsun; Lee, Joyce; Kumar, Sushant; Lin, Jiadong; Rausch, Tobias; Chen, Yu; Ren, Jingwen; Santamarina, Martin; Höps, Wolfram; Ashraf, Hufsah; Chuang, Nelson T; Yang, Xiaofei; Munson, Katherine M; Lewis, Alexandra P; Fairley, Susan; Tallon, Luke J; Clarke, Wayne E; Basile, Anna O; Byrska-Bishop, Marta; Corvelo, André; Evani, Uday S; Lu, Tsung-Yu; Chaisson, Mark J P; Chen, Junjie; Li, Chong; Brand, Harrison; Wenger, Aaron M; Ghareghani, Maryam; Harvey, William T; Raeder, Benjamin; Hasenfeld, Patrick; Regier, Allison A; Abel, Haley J; Hall, Ira M; Flicek, Paul; Stegle, Oliver; Gerstein, Mark B; Tubio, Jose M C.
Afiliação
  • Ebert P; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.
  • Audano PA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Zhu Q; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Rodriguez-Martin B; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Bonder MJ; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Sulovari A; Division of Computational Genomics and Systems Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
  • Ebler J; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Zhou W; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.
  • Serra Mari R; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, 100 Washtenaw Avenue, Ann Arbor, MI 48109, USA.
  • Yilmaz F; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.
  • Zhao X; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
  • Hsieh P; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Lee J; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Kumar S; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Lin J; Bionano Genomics, San Diego, CA 92121, USA.
  • Rausch T; Program in Computational Biology and Bioinformatics, Yale University, BASS 432 and 437, 266 Whitney Avenue, New Haven, CT 06520, USA.
  • Chen Y; School of Automation Science and Engineering, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.
  • Ren J; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Santamarina M; Department of Genetics and Informatics Institute, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Höps W; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
  • Ashraf H; Genomes and Disease, Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
  • Chuang NT; Department of Zoology, Genetics, and Physical Anthropology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
  • Yang X; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Munson KM; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.
  • Lewis AP; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA.
  • Fairley S; School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.
  • Tallon LJ; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Clarke WE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Basile AO; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Byrska-Bishop M; Institute for Genome Sciences, University of Maryland School of Medicine, 670 W Baltimore Street, Baltimore, MD 21201, USA.
  • Corvelo A; New York Genome Center, New York, NY 10013, USA.
  • Evani US; New York Genome Center, New York, NY 10013, USA.
  • Lu TY; New York Genome Center, New York, NY 10013, USA.
  • Chaisson MJP; New York Genome Center, New York, NY 10013, USA.
  • Chen J; New York Genome Center, New York, NY 10013, USA.
  • Li C; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
  • Brand H; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
  • Wenger AM; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA.
  • Ghareghani M; Department of Computer and Information Sciences, Temple University, Philadelphia, PA 19122, USA.
  • Harvey WT; Center for Genomic Medicine, Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.
  • Raeder B; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Hasenfeld P; Pacific Biosciences of California, Menlo Park, CA 94025, USA.
  • Regier AA; Max Planck Institute for Informatics, Saarland Informatics Campus E1.4, 66123 Saarbrücken, Germany.
  • Abel HJ; Saarbrücken Graduate School of Computer Science, Saarland University, Saarland Informatics Campus E1.3, 66123 Saarbrücken, Germany.
  • Hall IM; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Moorenstraße 20, 40225 Düsseldorf, Germany.
  • Flicek P; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Avenue NE, Seattle, WA 98195-5065, USA.
  • Stegle O; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Gerstein MB; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, 69117 Heidelberg, Germany.
  • Tubio JMC; Department of Medicine, Washington University, St. Louis, MO 63108, USA.
Science ; 372(6537)2021 04 02.
Article em En | MEDLINE | ID: mdl-33632895
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Haplótipos / Genoma Humano Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Science Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Haplótipos / Genoma Humano Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Science Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha