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. |
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| 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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| ISSN: | 1469-1809 |
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| DOI: | 10.1111/ahg.12364 |
