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    Tytuł:
    Epigenetic patterns in a complete human genome.
    Autorzy:
    Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
    Sauria MEG; Department of Biology and Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Guitart X; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Hook PW; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Hoyt SJ; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Jain M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Razaghi R; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Altemose N; Department of Bioengineering, University of California Berkeley, Berkeley, CA, USA.
    Caldas GV; Department of Molecular and Cell Biology, University of California Berkeley, Berkeley CA, USA.
    Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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 Biology and Computer Science, Johns Hopkins University, Baltimore, MD, 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.
    Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Timp W; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabj5089. Date of Electronic Publication: 2022 Apr 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
    MeSH Terms:
    CpG Islands*
    DNA Methylation*
    Epigenesis, Genetic*
    Genome, Human*
    Centromere/genetics ; Centromere/metabolism ; Disease/genetics ; Genetic Loci ; Genomics/standards ; Humans ; Reference Standards ; Sequence Analysis, DNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Complete genomic and epigenetic maps of human centromeres.
    Autorzy:
    Altemose N; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
    Logsdon GA; Department of Genome Sciences, 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.
    Sidhwani P; Department of Biochemistry, Stanford University, Stanford, CA, USA.
    Langley SA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
    Caldas GV; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
    Hoyt SJ; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Uralsky L; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.
    Ryabov FD; Moscow Polytechnic University, Moscow, Russia.
    Shew CJ; Genome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, USA.
    Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
    Borchers M; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
    Mikheenko A; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
    Shepelev VA; Vavilov Institute of General Genetics, Moscow, Russia.
    Dvorkina T; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
    Kunyavskaya O; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
    Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    McCartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Asri M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Lorig-Roach R; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Shafin K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Lucas JK; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Olson D; Department of Computer Science, University of Montana, Missoula, MT. USA.
    de Lima LG; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Hartley GA; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Haukness M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Kerpedjiev P; Reservoir Genomics, Oakland, CA.
    Gusev F; Vavilov Institute of General Genetics, Moscow, Russia.
    Tigyi K; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
    Brooks S; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Young A; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Salama SR; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
    Paten B; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Department of Biomolecular Engineering, University of California Santa Cruz, CA, USA.
    Rogaev EI; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
    Streets A; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA.
    Karpen GH; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.; BioEngineering and BioMedical Sciences Department, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
    Dernburg AF; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Institute for Quantitative Biosciences (QB3), University of California, Berkeley, Berkeley, CA, USA.
    Sullivan BA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.
    Straight AF; Department of Biochemistry, Stanford University, Stanford, CA, USA.
    Wheeler TJ; Department of Computer Science, University of Montana, Missoula, MT. USA.
    Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; University of Kansas Medical School, Department of Biochemistry and Molecular Biology and Cancer Center, University of Kansas, Kansas City, KS, USA.
    Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
    Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Timp W; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Dennis MY; Genome Center, MIND Institute, and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, Davis, CA, 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.
    Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Pevzner PA; Department of Computer Science and Engineering, University of California at San Diego, San Diego, CA, USA.
    Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Langley CH; Department of Evolution and Ecology, University of California Davis, Davis, CA, USA.
    Alexandrov IA; Vavilov Institute of General Genetics, Moscow, Russia.; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.; Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
    Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.; Department of Biomolecular Engineering, University of California Santa Cruz, CA, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabl4178. Date of Electronic Publication: 2022 Apr 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Chromosome Mapping*
    Epigenesis, Genetic*
    Genome, Human*
    Centromere/*genetics
    Evolution, Molecular ; Genomics ; Humans ; Repetitive Sequences, Nucleic Acid
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    From telomere to telomere: The transcriptional and epigenetic state of human repeat elements.
    Autorzy:
    Hoyt SJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Storer JM; Institute for Systems Biology, Seattle, WA, USA.
    Hartley GA; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Grady PGS; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
    de Lima LG; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Limouse C; Department of Biochemistry, Stanford University, Stanford, CA, USA.
    Halabian R; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
    Wojenski L; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Rodriguez M; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
    Altemose N; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
    Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Core LJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
    Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Makalowski W; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
    Olson D; Department of Computer Science, University of Montana, Missoula, MT, USA.
    Rosen J; Institute for Systems Biology, Seattle, WA, USA.
    Smit AFA; Institute for Systems Biology, Seattle, WA, USA.
    Straight AF; Department of Biochemistry, Stanford University, Stanford, CA, USA.
    Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Wheeler TJ; Department of Computer Science, University of Montana, Missoula, MT, USA.
    Schatz MC; Department of Computer Science and Department of Biology, Johns Hopkins University, Baltimore, MD, 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.
    Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Timp W; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    O'Neill RJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabk3112. Date of Electronic Publication: 2022 Apr 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Epigenesis, Genetic*
    Genome, Human*
    Repetitive Sequences, Nucleic Acid*
    Transcription, Genetic*
    Telomere/*genetics
    Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    The complete sequence of a human genome.
    Autorzy:
    Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, La Jolla, CA, USA.
    Mikheenko A; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
    Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Altemose N; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.
    Uralsky L; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.
    Gershman A; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.
    Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Hoyt SJ; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Diekhans M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Alonge M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Antonarakis SE; University of Geneva Medical School, Geneva, Switzerland.
    Borchers M; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Bouffard GG; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Brooks SY; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Caldas GV; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA.
    Chen NC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Cheng H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
    Chin CS; DNAnexus, Mountain View, CA, USA.
    Chow W; Wellcome Sanger Institute, Cambridge, UK.
    de Lima LG; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Dishuck PC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Durbin R; Wellcome Sanger Institute, Cambridge, UK.; Department of Genetics, University of Cambridge, Cambridge, UK.
    Dvorkina T; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.
    Fiddes IT; Inscripta, Boulder, CO, USA.
    Formenti G; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
    Fulton RS; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
    Fungtammasan A; DNAnexus, Mountain View, CA, USA.
    Garrison E; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; University of Tennessee Health Science Center, Memphis, TN, USA.
    Grady PGS; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Graves-Lindsay TA; McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.
    Hall IM; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
    Hansen NF; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Hartley GA; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Haukness M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Howe K; Wellcome Sanger Institute, Cambridge, UK.
    Hunkapiller MW; Pacific Biosciences, Menlo Park, CA, USA.
    Jain C; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Department of Computational and Data Sciences, Indian Institute of Science, Bangalore KA, India.
    Jain M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Jarvis ED; Laboratory of Neurogenetics of Language and The Vertebrate Genome Lab, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
    Kerpedjiev P; Reservoir Genomics LLC, Oakland, CA, USA.
    Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Kolmogorov M; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.
    Korlach J; Pacific Biosciences, Menlo Park, CA, USA.
    Kremitzki M; McDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, USA.
    Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
    Maduro VV; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Marschall T; Heinrich Heine University Düsseldorf, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany.
    McCartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    McDaniel J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Miller DE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
    Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Myers EW; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.
    Olson ND; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Peluso P; Pacific Biosciences, Menlo Park, CA, USA.
    Pevzner PA; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.
    Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA.
    Rogaev EI; Sirius University of Science and Technology, Sochi, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA.; Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia.
    Rosenfeld JA; Cancer Institute of New Jersey, New Brunswick, NJ, USA.
    Salzberg SL; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
    Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
    Shafin K; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Shew CJ; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
    Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Sims Y; Wellcome Sanger Institute, Cambridge, UK.
    Smit AFA; Institute for Systems Biology, Seattle, WA, USA.
    Soto DC; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
    Sović I; Pacific Biosciences, Menlo Park, CA, USA.; Digital BioLogic d.o.o., Ivanić-Grad, Croatia.
    Storer JM; Institute for Systems Biology, Seattle, WA, USA.
    Streets A; Department of Bioengineering, University of California, Berkeley, Berkeley, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA.
    Sullivan BA; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC, USA.
    Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
    Torrance J; Wellcome Sanger Institute, Cambridge, UK.
    Wagner J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Wenger A; Pacific Biosciences, Menlo Park, CA, USA.
    Wood JMD; Wellcome Sanger Institute, Cambridge, UK.
    Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
    Yan SM; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
    Young AC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
    Surti U; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
    McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
    Dennis MY; Genome Center, MIND Institute, Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA.
    Alexandrov IA; Center for Algorithmic Biotechnology, Institute of Translational Biomedicine, Saint Petersburg State University, Saint Petersburg, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.; Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.
    Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; Department of Biochemistry and Molecular Biology, University of Kansas Medical School, Kansas City, MO, USA.
    O'Neill RJ; Institute for Systems Genomics and Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
    Timp W; Department of Molecular Biology and Genetics, Johns Hopkins University, Baltimore, MD, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Zook JM; Biosystems and Biomaterials Division, 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.
    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.
    Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.
    Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. 44-53. Date of Electronic Publication: 2022 Mar 31.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Genome, Human*
    Human Genome Project*
    Sequence Analysis, DNA/*standards
    Cell Line ; Chromosomes, Artificial, Bacterial/genetics ; Chromosomes, Human/genetics ; Humans ; Reference Values
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Segmental duplications and their variation in a complete human genome.
    Autorzy:
    Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Guitart X; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Dishuck PC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Mercuri L; Department of Biology, University of Bari, Aldo Moro, Bari 70125, Italy.
    Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Gershman A; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Li R; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
    Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
    Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Timp W; Department of Molecular Biology and Genetics, Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
    Ventura M; Department of Biology, University of Bari, Aldo Moro, Bari 70125, Italy.
    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.
    Pokaż więcej
    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabj6965. Date of Electronic Publication: 2022 Apr 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    DNA Copy Number Variations*
    Gene Duplication*
    Genome, Human*
    Segmental Duplications, Genomic*
    Evolution, Molecular ; GTPase-Activating Proteins/genetics ; Humans ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A complete reference genome improves analysis of human genetic variation.
    Autorzy:
    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.
    Pokaż więcej
    Źródło:
    Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabl3533. Date of Electronic Publication: 2022 Apr 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Genetic Variation*
    Genome, Human*
    Genomics/*standards
    Sequence Analysis, DNA/*standards
    Humans ; Reference Standards
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Improved data analysis for the MinION nanopore sequencer.
    Autorzy:
    Jain M; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Fiddes IT; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Miga KH; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Olsen HE; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Paten B; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Akeson M; 1] UC Santa Cruz Genomics Institute, Santa Cruz, California, USA. [2] Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.
    Pokaż więcej
    Źródło:
    Nature methods [Nat Methods] 2015 Apr; Vol. 12 (4), pp. 351-6. Date of Electronic Publication: 2015 Feb 16.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Nanopores*
    High-Throughput Nucleotide Sequencing/*methods
    Algorithms ; Gene Dosage ; Humans ; Neoplasms/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Genomic characterization of large heterochromatic gaps in the human genome assembly.
    Autorzy:
    Altemose N; Genome Biology Group, Duke Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina, United States of America.
    Miga KH; Genome Biology Group, Duke Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina, United States of America.
    Maggioni M; Department of Mathematics, Duke University, Durham, North Carolina, United States of America.
    Willard HF; Genome Biology Group, Duke Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina, United States of America.
    Pokaż więcej
    Źródło:
    PLoS computational biology [PLoS Comput Biol] 2014 May 15; Vol. 10 (5), pp. e1003628. Date of Electronic Publication: 2014 May 15 (Print Publication: 2014).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Chromosome Mapping/*methods
    Chromosomes, Human, Y/*genetics
    DNA, Satellite/*genetics
    Genome, Human/*genetics
    Heterochromatin/*genetics
    Sequence Analysis, DNA/*methods
    Base Sequence ; Humans ; Molecular Sequence Data
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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