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A complete reference genome improves analysis of human genetic variation.

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Title: A complete reference genome improves analysis of human genetic variation.
Authors: Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Yan SM; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Soto DC; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA., Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Avdeyev P; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Shafin K; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA., Wagner J; National Institute of Standards and Technology, Gaithersburg, MD, USA., McDaniel J; National Institute of Standards and Technology, Gaithersburg, MD, USA., Olson ND; National Institute of Standards and Technology, Gaithersburg, MD, USA., Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Vollger MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Rhie A; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Meredith M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Martin S; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA., Lee J; Bionano Genomics, San Diego, CA, USA., Koren S; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Rosenfeld JA; Cancer Institute of New Jersey, New Brunswick, NJ, USA., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Layer R; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA., Chin CS; DNAnexus, Mountain View, CA, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hansen NF; Comparative Genomics Analysis Unit, National Human Genome Research Institute, Rockville, MD, USA., Miller DE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Phillippy AM; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Dennis MY; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA., Zook JM; National Institute of Standards and Technology, Gaithersburg, MD, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
Source: Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabl3533. Date of Electronic Publication: 2022 Apr 01.
Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A complete reference genome improves analysis of human genetic variation.
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  Data: <searchLink fieldCode="AU" term="%22Aganezov+S%22">Aganezov S</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Yan+SM%22">Yan SM</searchLink>; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Soto+DC%22">Soto DC</searchLink>; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kirsche+M%22">Kirsche M</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zarate+S%22">Zarate S</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Avdeyev+P%22">Avdeyev P</searchLink>; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+DJ%22">Taylor DJ</searchLink>; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Shafin+K%22">Shafin K</searchLink>; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shumate+A%22">Shumate A</searchLink>; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Xiao+C%22">Xiao C</searchLink>; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wagner+J%22">Wagner J</searchLink>; National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22McDaniel+J%22">McDaniel J</searchLink>; National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Olson+ND%22">Olson ND</searchLink>; National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sauria+MEG%22">Sauria MEG</searchLink>; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Vollger+MR%22">Vollger MR</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Rhie+A%22">Rhie A</searchLink>; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Meredith+M%22">Meredith M</searchLink>; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.<br /><searchLink fieldCode="AU" term="%22Martin+S%22">Martin S</searchLink>; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Bionano Genomics, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Koren+S%22">Koren S</searchLink>; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Cancer Institute of New Jersey, New Brunswick, NJ, USA.<br /><searchLink fieldCode="AU" term="%22Paten+B%22">Paten B</searchLink>; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.<br /><searchLink fieldCode="AU" term="%22Layer+R%22">Layer R</searchLink>; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA.<br /><searchLink fieldCode="AU" term="%22Chin+CS%22">Chin CS</searchLink>; DNAnexus, Mountain View, CA, USA.<br /><searchLink fieldCode="AU" term="%22Sedlazeck+FJ%22">Sedlazeck FJ</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hansen+NF%22">Hansen NF</searchLink>; Comparative Genomics Analysis Unit, National Human Genome Research Institute, Rockville, MD, USA.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Phillippy+AM%22">Phillippy AM</searchLink>; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Miga+KH%22">Miga KH</searchLink>; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.<br /><searchLink fieldCode="AU" term="%22McCoy+RC%22">McCoy RC</searchLink>; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dennis+MY%22">Dennis MY</searchLink>; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA.<br /><searchLink fieldCode="AU" term="%22Zook+JM%22">Zook JM</searchLink>; National Institute of Standards and Technology, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schatz+MC%22">Schatz MC</searchLink>; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
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