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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Vollger, Mitchell R; Logsdon, Glennis A; Audano, Peter A; Sulovari, Arvis; Porubsky, David; Peluso, Paul; Wenger, Aaron M; Concepcion, Gregory T; Kronenberg, Zev N; Munson, Katherine M; Baker, Carl; Sanders, Ashley D; Spierings, Diana C J; Lansdorp, Peter M; Surti, Urvashi; Hunkapiller, Michael W; Eichler, Evan E.
Afiliação
  • Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Audano PA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Peluso P; Pacific Biosciences of California, Menlo Park, California.
  • Wenger AM; Pacific Biosciences of California, Menlo Park, California.
  • Concepcion GT; Pacific Biosciences of California, Menlo Park, California.
  • Kronenberg ZN; Pacific Biosciences of California, Menlo Park, California.
  • Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.
  • Sanders AD; European Molecular Biology Laboratory, Genome Biology Unit, Heidelberg, Germany.
  • Spierings DCJ; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Lansdorp PM; European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Surti U; Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.
  • Hunkapiller MW; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Eichler EE; Department of Pathology, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Ann Hum Genet ; 84(2): 125-140, 2020 03.
Article em En | MEDLINE | ID: mdl-31711268

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Biomarcadores / Mola Hidatiforme / Genoma Humano / Análise de Sequência de DNA / Análise de Célula Única / Haploidia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Biomarcadores / Mola Hidatiforme / Genoma Humano / Análise de Sequência de DNA / Análise de Célula Única / Haploidia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Ann Hum Genet Ano de publicação: 2020 Tipo de documento: Article