المؤلفون: Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Department of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Rozanski AN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Ryabov F; Masters Program in National Research University Higher School of Economics, Moscow, Russia., Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA., Shepelev VA; Institute of Molecular Genetics, Moscow, Russia., Catacchio CR; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mao Y; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China., Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, 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.; Oxford Nanopore Technologies, Oxford, United Kingdom., Lucas JK; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA., Hoekzema K; 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., Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ventura M; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy., Alexandrov IA; Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel.; Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Dan David Center for Human Evolution and Biohistory Research, Tel Aviv University, Tel Aviv, Israel., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

المصدر: Nature [Nature] 2024 May; Vol. 629 (8010), pp. 136-145. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Centromere*/genetics , Centromere*/metabolism , Evolution, Molecular* , Genetic Variation*, Animals ; Humans ; Centromere Protein A/metabolism ; DNA Methylation/genetics ; DNA, Satellite/genetics ; Kinetochores/metabolism ; Macaca/genetics ; Pan troglodytes/genetics ; Polymorphism, Single Nucleotide/genetics ; Pongo/genetics ; Male ; Female ; Reference Standards ; Chromatin Immunoprecipitation ; Haplotypes ; Mutation ; Gene Amplification ; Sequence Alignment ; Chromatin/genetics ; Chromatin/metabolism ; Species Specificity

المؤلفون: Lorig-Roach R; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu., Meredith M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Monlong J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Jain M; Department of Bioengineering, Department of Physics, Northeastern University, Boston, Massachusetts 02120, USA., Olsen HE; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., McNulty B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA., Montague TG; The Mortimer B. Zuckerman Mind Brain Behavior Institute, Department of Neuroscience, Columbia University, New York, New York 10027, USA.; Howard Hughes Medical Institute, Columbia University, New York, New York 10032, USA., Lucas JK; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Condon C; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Eizenga JM; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Juul S; Oxford Nanopore Technologies Incorporated, New York, New York 10013, USA., McKenzie SK; Oxford Nanopore Technologies Incorporated, New York, New York 10013, USA., Simmonds SE; Chan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA., Park J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Asri M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20894, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Axel R; The Mortimer B. Zuckerman Mind Brain Behavior Institute, Department of Neuroscience, Columbia University, New York, New York 10027, USA.; Howard Hughes Medical Institute, Columbia University, New York, New York 10032, USA., Martin B; Chan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA., Carnevali P; Chan Zuckerberg Initiative Foundation, Redwood City, California 94063, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, California 95060, USA; rlorigro@ucsc.edu pacarnev@ucsc.edu bpaten@ucsc.edu.

المصدر: Genome research [Genome Res] 2024 Apr 25; Vol. 34 (3), pp. 454-468. Date of Electronic Publication: 2024 Apr 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

مواضيع طبية MeSH: Nanopores*, Humans ; Sequence Analysis, DNA/methods ; Nanopore Sequencing/methods ; High-Throughput Nucleotide Sequencing/methods ; Software ; Genomics/methods

المؤلفون: Sapkota K; Department of Chemistry and Biochemistry, University of Southern Mississippi, Hattiesburg, MS, USA., Lucas JK; Department of Biochemistry, University of Missouri, Columbia, MO, USA.; Bond Life Sciences Center, University of Missouri, Columbia, MO, USA., Faulkner JW; Department of Chemistry and Biochemistry, University of Southern Mississippi, Hattiesburg, MS, USA., Lichte MF; Department of Biochemistry, University of Missouri, Columbia, MO, USA.; Bond Life Sciences Center, University of Missouri, Columbia, MO, USA., Guo YL; Department of Cell and Molecular Biology, University of Southern Mississippi, Hattiesburg, MS, USA., Burke DH; Department of Biochemistry, University of Missouri, Columbia, MO, USA.; Bond Life Sciences Center, University of Missouri, Columbia, MO, USA.; Department of Molecular Microbiology & Immunology, University of Missouri, Columbia, MO, USA., Huang F; Department of Chemistry and Biochemistry, University of Southern Mississippi, Hattiesburg, MS, USA.

المصدر: RNA biology [RNA Biol] 2024 Jan; Vol. 21 (1), pp. 1-12. Date of Electronic Publication: 2023 Nov 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101235328 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1555-8584 (Electronic) Linking ISSN: 15476286 NLM ISO Abbreviation: RNA Biol Subsets: MEDLINE

مواضيع طبية MeSH: Coenzyme A*/metabolism , NAD*, Nucleotidyltransferases/chemistry ; Adenosine Triphosphate

المؤلفون: Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, 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.; Oxford Nanopore Technologies Inc., Oxford, UK., Cechova M; Faculty of Informatics, Masaryk University, Brno, Czech Republic.; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA., Hoyt SJ; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Altemose N; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA., Hook PW; 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., Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Alexandrov IA; Federal Research Center of Biotechnology of the Russian Academy of Sciences, Moscow, Russia.; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.; Department of Anatomy and Anthropology and Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel., Allen J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Asri M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Bzikadze AV; Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA., Chen NC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Chin CS; GeneDX Holdings Corp, Stamford, CT, USA.; Foundation of Biological Data Science, Belmont, CA, USA., Diekhans M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Genetics, University of Cambridge, Cambridge, UK., Formenti G; The Rockefeller University, New York, NY, USA., Fungtammasan A; DNAnexus, Inc., Mountain View, CA, USA., Garcia Giron C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Gershman A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA.; University of Kansas Medical Center, Kansas City, MO, USA., Grady PGS; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy., Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Halabian R; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany., Hansen NF; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Harris R; Department of Biology, Pennsylvania State University, University Park, PA, USA., Hartley GA; Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Haukness M; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Heinz J; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hubley RM; Institute for Systems Biology, Seattle, WA, USA., Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hwang S; XDBio Program, Johns Hopkins University, Baltimore, MD, USA., Jain M; Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA., Kesharwani RK; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Lucas JK; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Makalowski W; Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany., Markovic C; Genome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA., Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Mc Cartney AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., McDaniel J; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., McNulty BM; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Medvedev P; Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA, USA.; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA.; Center for Computational Biology and Bioinformatics, Pennsylvania State University, University Park, PA, USA., Mikheenko A; Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.; UCL Queen Square Institute of Neurology, UCL, London, UK., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Murphy TD; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Olsen HE; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Olson ND; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 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., Ryabov F; Masters Program in National Research University Higher School of Economics, Moscow, Russia., Salzberg SL; Departments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA., Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA., Shafin K; Google Inc., Mountain View, CA, USA., Shepelev VA; Institute of Molecular Genetics, Moscow, Russia., Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Storer JM; Institute for Systems Biology, Seattle, WA, USA., Surapaneni L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Taravella Oill AM; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA., Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Timp W; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Tomaszkiewicz M; Department of Biology, Pennsylvania State University, University Park, PA, USA.; Department of Biomedical Engineering, Pennsylvania State University, State College, PA, USA., Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Walenz BP; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Watwood AC; Department of Biology, Pennsylvania State University, University Park, PA, USA., Weissensteiner MH; Department of Biology, Pennsylvania State University, University Park, PA, USA., Wenger AM; Pacific Biosciences, Menlo Park, CA, USA., Wilson MA; Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA., Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Zhu Y; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA., Zook JM; Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Investigator, Howard Hughes Medical Institute, University of Washington, Seattle, WA, 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., Schatz MC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Miga KH; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Makova KD; Department of Biology, Pennsylvania State University, University Park, PA, USA., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.

المصدر: Nature [Nature] 2023 Sep; Vol. 621 (7978), pp. 344-354. Date of Electronic Publication: 2023 Aug 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Y*/genetics , Genomics*/methods , Genomics*/standards , Sequence Analysis, DNA*/standards, Humans ; Base Sequence ; DNA, Satellite/genetics ; Genetic Variation/genetics ; Genetics, Population ; Heterochromatin/genetics ; Multigene Family/genetics ; Reference Standards ; Segmental Duplications, Genomic/genetics ; Tandem Repeat Sequences/genetics ; Telomere/genetics

المؤلفون: Lucas JK; Department of Biochemistry, University of Missouri, Columbia, Missouri 65201, USA.; Bond Life Sciences Center, University of Missouri, Columbia, Missouri 65201, USA., Gruenke PR; Bond Life Sciences Center, University of Missouri, Columbia, Missouri 65201, USA.; Department of Molecular Microbiology and Immunology, University of Missouri, Columbia, Missouri 65211, USA., Burke DH; Department of Biochemistry, University of Missouri, Columbia, Missouri 65201, USA burkedh@missouri.edu.; Bond Life Sciences Center, University of Missouri, Columbia, Missouri 65201, USA.; Department of Molecular Microbiology and Immunology, University of Missouri, Columbia, Missouri 65211, USA.; Department of Chemical and Biomedical Engineering, University of Missouri, Columbia, Missouri 65211, USA.

المصدر: RNA (New York, N.Y.) [RNA] 2023 Aug; Vol. 29 (8), pp. 1301-1315. Date of Electronic Publication: 2023 May 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9509184 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-9001 (Electronic) Linking ISSN: 13558382 NLM ISO Abbreviation: RNA Subsets: MEDLINE

مواضيع طبية MeSH: Reverse Transcription* , Aptamers, Nucleotide*/chemistry, DNA, Complementary ; RNA-Directed DNA Polymerase/genetics ; RNA-Directed DNA Polymerase/metabolism ; Gene Library ; RNA, Viral ; SELEX Aptamer Technique

المؤلفون: Logsdon GA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Rozanski AN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Ryabov F; Masters Program in National Research University Higher School of Economics, Moscow, Russia., Potapova T; Stowers Institute for Medical Research, Kansas City, MO, USA., Shepelev VA; Institute of Molecular Genetics, Moscow, Russia; Currently retired., Mao Y; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China., Rautiainen M; 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., Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, 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., Lucas JK; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Hoekzema K; 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., Gerton JL; Stowers Institute for Medical Research, Kansas City, MO, USA., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Alexandrov IA; Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Tel Aviv, Israel.; Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Dan David Center for Human Evolution and Biohistory Research, Tel Aviv University, Tel Aviv, Israel., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 May 30. Date of Electronic Publication: 2023 May 30.

نوع المنشور: Preprint

بيانات الدورية: 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

المؤلفون: Liao WW; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.; Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA., Asri M; Genomics Institute, University of California, Santa Cruz, CA, USA., Ebler J; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Doerr D; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Haukness M; Genomics Institute, University of California, Santa Cruz, CA, USA., Hickey G; Genomics Institute, University of California, Santa Cruz, CA, USA., Lu S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA., Lucas JK; Genomics Institute, University of California, Santa Cruz, CA, USA., Monlong J; Genomics Institute, University of California, Santa Cruz, CA, USA., Abel HJ; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA., Buonaiuto S; Institute of Genetics and Biophysics, National Research Council, Naples, Italy., Chang XH; Genomics Institute, University of California, Santa Cruz, CA, USA., Cheng H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Chu J; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA., Colonna V; Institute of Genetics and Biophysics, National Research Council, Naples, Italy.; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Eizenga JM; Genomics Institute, University of California, Santa Cruz, CA, USA., Feng X; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Fischer C; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Garg S; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark., Groza C; Quantitative Life Sciences, McGill University, Montréal, Québec, Canada., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy., Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Heumos S; Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.; Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany., Howe K; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK., Jain M; Northeastern University, Boston, MA, USA., Lu TY; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Markello C; Genomics Institute, University of California, Santa Cruz, CA, USA., Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Mwaniki MN; Department of Computer Science, University of Pisa, Pisa, Italy., Novak AM; Genomics Institute, University of California, Santa Cruz, CA, USA., Olsen HE; Genomics Institute, University of California, Santa Cruz, CA, USA., Pesout T; Genomics Institute, University of California, Santa Cruz, CA, USA., Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Prins P; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Sibbesen JA; Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark., Sirén J; Genomics Institute, University of California, Santa Cruz, CA, USA., Tomlinson C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Villani F; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA., Antonacci-Fulton LL; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Baid G; Google, Mountain View, CA, USA., Baker CA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Belyaeva A; Google, Mountain View, CA, USA., Billis K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Carroll A; Google, Mountain View, CA, USA., Chang PC; Google, Mountain View, CA, USA., Cody S; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Cook DE; Google, Mountain View, CA, USA., Cook-Deegan RM; Barrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA., Cornejo OE; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA., Diekhans M; Genomics Institute, University of California, Santa Cruz, CA, USA., Ebert P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Core Unit Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Fedrigo O; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Felsenfeld AL; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Formenti G; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Frankish A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Gao Y; Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Garrison NA; Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Giron CG; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Green RE; Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.; Dovetail Genomics, Scotts Valley, CA, USA., Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Ji HP; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Koenig BA; Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA., Kolesnikov A; Google, Mountain View, CA, USA., Korbel JO; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany., Kordosky J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Lee H; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Magalhães H; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., Marco-Sola S; Computer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.; Departament d'Arquitectura de Computadors i Sistemes Operatius, Universitat Autònoma de Barcelona, Barcelona, Spain., Marijon P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany., McCartney A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., McDaniel J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Mountcastle J; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA., Nattestad M; Google, Mountain View, CA, USA., Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Popejoy AB; Department of Public Health Sciences, University of California, Davis, CA, USA., Puiu D; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sacco S; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA., Sanders AD; Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Schultz BI; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Shafin K; Google, Mountain View, CA, USA., Smith MW; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Sofia HJ; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE., Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA., Tricomi FF; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Walenz B; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wood JMD; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK., Zimin AV; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Bourque G; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Canadian Center for Computational Genomics, McGill University, Montréal, Québec, Canada.; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, 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., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Haussler D; Genomics Institute, University of California, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Wang T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Jarvis ED; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA., Miga KH; Genomics Institute, University of California, Santa Cruz, CA, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu., Marschall T; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de., Hall IM; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu., Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu., Paten B; Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.

المصدر: Nature [Nature] 2023 May; Vol. 617 (7960), pp. 312-324. Date of Electronic Publication: 2023 May 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human*/genetics , Genomics*/standards, Humans ; Diploidy ; Haplotypes/genetics ; Sequence Analysis, DNA ; Reference Standards ; Cohort Studies ; Alleles ; Genetic Variation

المؤلفون: Bhardwaj P; Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA., Valladares D; Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA., Gutman CK; Department of Emergency Medicine, University of Florida College of Medicine, Gainesville, USA., Lucas JK; Department of Pediatrics, Division of Emergency Medicine, University of Florida College of Medicine, Gainesville, USA., Kelly MN; Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA.

المصدر: Cureus [Cureus] 2023 Mar 09; Vol. 15 (3), pp. e35944. Date of Electronic Publication: 2023 Mar 09 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

المؤلفون: 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.

المصدر: Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabl4178. Date of Electronic Publication: 2022 Apr 01.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Chromosome Mapping* , Epigenesis, Genetic* , Genome, Human*, Centromere/*genetics, Evolution, Molecular ; Genomics ; Humans ; Repetitive Sequences, Nucleic Acid

المؤلفون: Wang T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu., Antonacci-Fulton L; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Howe K; Wellcome Sanger Institute, Cambridge, UK., Lawson HA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Lucas JK; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Phillippy AM; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Popejoy AB; Epidemiology Division, Department of Public Health Sciences, University of California, Davis, CA, USA., Asri M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Carson C; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Chang X; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Cook-Deegan R; Arizona State University, Barrett & O'Connor Washington Center, Washington DC, USA., Felsenfeld AL; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Garrison EP; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Garrison NA; Institute for Society & Genetics, College of Letters and Science, University of California, Los Angeles, Los Angeles, CA, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Division of General Internal Medicine & Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Graves-Lindsay TA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Ji H; Department of Medicine, Stanford University, School of Medicine, Stanford, CA, USA., Kenny EE; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Koenig BA; Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Li D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Marschall T; Heinrich Heine University, Medical Faculty, Institute for Medical Biometry and Bioinformatics, Düsseldorf, Germany., McMichael JF; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Novak AM; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Purushotham D; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Schneider VA; National Center for Biotechnology Information (NCBI), National Library of Medicine, Bethesda, MD, USA., Schultz BI; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Smith MW; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Sofia HJ; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA., Weissman T; Department of Electrical Engineering, Stanford University, Stanford, CA, USA., Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK. flicek@ebi.ac.uk., Li H; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu.; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. khmiga@ucsc.edu., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu., Jarvis ED; Vertebrate Genome Lab and and Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA. ejarvis@rockefeller.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. ejarvis@rockefeller.edu., Hall IM; Yale School of Medicine, New Haven, CT, USA. ira.hall@yale.edu., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu., Haussler D; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. haussler@ucsc.edu.; Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA. haussler@ucsc.edu.

مؤلفون مشاركون: Human Pangenome Reference Consortium

المصدر: Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 437-446. Date of Electronic Publication: 2022 Apr 20.

نوع المنشور: Journal Article; Review; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human*/genetics , Genomics*, Haplotypes/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Sequence Analysis, DNA