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A complete diploid human genome benchmark for personalized genomics.

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Title: A complete diploid human genome benchmark for personalized genomics.
Authors: Hansen NF; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dwarshuis N; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Ji HJ; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Rhie A; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Loucks H; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Logsdon GA; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Vollger MR; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Storer JM; Institute for Systems Genomics, University of Connecticut, Storrs CT, USA., Kim J; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Adam E; Department of Computer Science, Old Dominion University, Norfolk, VA, USA., Altemose N; Department of Genetics, School of Medicine, Stanford University, Palo Alto, CA, USA.; Chan Zuckerberg Biohub, San Francisco, San Francisco, CA USA., Antipov D; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Asri M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Barreira S; Computational Genomics Unit, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bohaczuk SC; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA., Carioscia SA; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Carroll A; Google LLC, Mountain View, CA, USA., Chao KH; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Chu Y; Beijing Institute of Genomics, Chinese Academy of Sciences, and China National Center for Bioinformation, Beijing, 100101, China., Das A; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Ebert P; Core Unit Bioinformatics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University Düsseldorf, Germany., English A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Fleharty M; Broad Institute, Broad Clinical Labs, Burlington, MA, USA., Fleming LE; Broad Institute, Broad Clinical Labs, Burlington, MA, USA., Formenti G; The Vertebrate Genome Laboratory, The Rockefeller University, New York, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Hartley GA; Institute for Systems Genomics, University of Connecticut, Storrs CT, USA., Jenike K; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Plant Sciences, University of Cambridge, Cambridge, UK, CB2 3EA., Kalleberg J; Division of Animal Sciences, University of Missouri, Columbia, MO, USA., Kang Y; Beijing Institute of Genomics, Chinese Academy of Sciences, and China National Center for Bioinformation, Beijing, 100101, China., King R; Oxford Nanopore Technologies, Oxford, UK., Lipovac J; Laboratory for Bioinformatics and Computational Biology, Faculty of Electrical Engineering and Computing, University of Zagreb, Zagreb, Croatia., Mastoras M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, USA., Negi S; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Oshima KK; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Pickett BD; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, 69117, Germany., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA., Ranjan D; Department of Computer Science, Old Dominion University, Norfolk, VA, USA., Rautiainen M; Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Riethman H; School of Medical Diagnostic & Translational Sciences, Old Dominion University, Norfolk VA, USA., Schnabel RD; Division of Animal Sciences, University of Missouri, Columbia, MO, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA., Shafin K; Google LLC, Mountain View, CA, USA., Sikic M; Laboratory for Bioinformatics and Computational Biology, Faculty of Electrical Engineering and Computing, University of Zagreb, Zagreb, Croatia.; Genome Institute of Singapore, A*STAR., Solar SJ; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sweeten AP; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Timp W; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Zhou Y; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., O'Neill RJ; Institute for Systems Genomics, University of Connecticut, Storrs CT, USA.; Department of Molecular and Cell Biology, University of Connecticut, Storrs CT, USA.; Department of Genome Sciences, UConn Health, Farmington, CT, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Salzberg SL; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, USA., Koren S; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Phillippy AM; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Sep 21. Date of Electronic Publication: 2025 Sep 21.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41000953
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.<br /><searchLink fieldCode="AU" term="%22Salzberg+SL%22">Salzberg SL</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Koren+S%22">Koren S</searchLink>; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zook+JM%22">Zook JM</searchLink>; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Phillippy+AM%22">Phillippy AM</searchLink>; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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        Value: 10.1101/2025.09.21.677443
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            NameFull: Porubsky D
      – PersonEntity:
          Name:
            NameFull: Ranchalis J
      – PersonEntity:
          Name:
            NameFull: Ranjan D
      – PersonEntity:
          Name:
            NameFull: Rautiainen M
      – PersonEntity:
          Name:
            NameFull: Riethman H
      – PersonEntity:
          Name:
            NameFull: Schnabel RD
      – PersonEntity:
          Name:
            NameFull: Sedlazeck FJ
      – PersonEntity:
          Name:
            NameFull: Shafin K
      – PersonEntity:
          Name:
            NameFull: Sikic M
      – PersonEntity:
          Name:
            NameFull: Solar SJ
      – PersonEntity:
          Name:
            NameFull: Sweeten AP
      – PersonEntity:
          Name:
            NameFull: Timp W
      – PersonEntity:
          Name:
            NameFull: Wagner J
      – PersonEntity:
          Name:
            NameFull: Yoo D
      – PersonEntity:
          Name:
            NameFull: Zhou Y
      – PersonEntity:
          Name:
            NameFull: Garrison E
      – PersonEntity:
          Name:
            NameFull: Eichler EE
      – PersonEntity:
          Name:
            NameFull: Schatz MC
      – PersonEntity:
          Name:
            NameFull: Stergachis AB
      – PersonEntity:
          Name:
            NameFull: O'Neill RJ
      – PersonEntity:
          Name:
            NameFull: Miga KH
      – PersonEntity:
          Name:
            NameFull: Salzberg SL
      – PersonEntity:
          Name:
            NameFull: Koren S
      – PersonEntity:
          Name:
            NameFull: Zook JM
      – PersonEntity:
          Name:
            NameFull: Phillippy AM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 21
              M: 09
              Text: 2025 Sep 21
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2692-8205
          Titles:
            – TitleFull: BioRxiv : the preprint server for biology
              Type: main
ResultId 1