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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.

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Title: Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Authors: 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.; Terry Fox Laboratory, BC Cancer Agency, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Surti U; Department of Pathology, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania., Hunkapiller MW; Pacific Biosciences of California, Menlo Park, California., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington.
Source: Annals of human genetics [Ann Hum Genet] 2020 Mar; Vol. 84 (2), pp. 125-140. Date of Electronic Publication: 2019 Nov 11.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
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