作者:
Arang,Rhie [1]
;
Sergey,Nurk [2]
;
Monika,Cechova [3]
;
Savannah J,Hoyt [4]
;
Dylan J,Taylor [5]
;
Nicolas,Altemose [6]
;
Paul W,Hook [7]
;
Sergey,Koren [1]
;
Mikko,Rautiainen [1]
;
Ivan A,Alexandrov [8]
;
Jamie,Allen [9]
;
Mobin,Asri [10]
;
Andrey V,Bzikadze [11]
;
Nae-Chyun,Chen [12]
;
Chen-Shan,Chin [13]
;
Mark,Diekhans [10]
;
Paul,Flicek [14]
;
Giulio,Formenti [15]
;
Arkarachai,Fungtammasan [16]
;
Carlos,Garcia Giron [9]
;
Erik,Garrison [17]
;
Ariel,Gershman [7]
;
Jennifer L,Gerton [18]
;
Patrick G S,Grady [4]
;
Andrea,Guarracino [19]
;
Leanne,Haggerty [9]
;
Reza,Halabian [20]
;
Nancy F,Hansen [21]
;
Robert,Harris [22]
;
Gabrielle A,Hartley [4]
;
William T,Harvey [23]
;
Marina,Haukness [10]
;
Jakob,Heinz [7]
;
Thibaut,Hourlier [9]
;
Robert M,Hubley [24]
;
Sarah E,Hunt [9]
;
Stephen,Hwang [25]
;
Miten,Jain [26]
;
Rupesh K,Kesharwani [27]
;
Alexandra P,Lewis [23]
;
Heng,Li [28]
;
Glennis A,Logsdon [23]
;
Julian K,Lucas [29]
;
Wojciech,Makalowski [20]
;
Christopher,Markovic [30]
;
Fergal J,Martin [9]
;
Ann M,Mc Cartney [1]
;
Rajiv C,McCoy [5]
;
Jennifer,McDaniel [31]
;
Brandy M,McNulty [29]
;
Paul,Medvedev [32]
;
Alla,Mikheenko [33]
;
Katherine M,Munson [23]
;
Terence D,Murphy [34]
;
Hugh E,Olsen [29]
;
Nathan D,Olson [31]
;
Luis F,Paulin [27]
;
David,Porubsky [23]
;
Tamara,Potapova [35]
;
Fedor,Ryabov [36]
;
Steven L,Salzberg [37]
;
Michael E G,Sauria [5]
;
Fritz J,Sedlazeck [38]
;
Kishwar,Shafin [39]
;
Valery A,Shepelev [40]
;
Alaina,Shumate [7]
;
Jessica M,Storer [24]
;
Likhitha,Surapaneni [9]
;
Angela M,Taravella Oill [41]
;
Françoise,Thibaud-Nissen [34]
;
Winston,Timp [7]
;
Marta,Tomaszkiewicz [42]
;
Mitchell R,Vollger [23]
;
Brian P,Walenz [1]
;
Allison C,Watwood [22]
;
Matthias H,Weissensteiner [22]
;
Aaron M,Wenger [43]
;
Melissa A,Wilson [41]
;
Samantha,Zarate [12]
;
Yiming,Zhu [27]
;
Justin M,Zook [31]
;
Evan E,Eichler [44]
;
Rachel J,O'Neill [45]
;
Michael C,Schatz [46]
;
Karen H,Miga [29]
;
Kateryna D,Makova [22]
;
Adam M,Phillippy [47]
作者单位:
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[1]
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.
[2]
Faculty of Informatics, Masaryk University, Brno, Czech Republic.;Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
[3]
Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT, USA.
[4]
Department of Biology, Johns Hopkins University, Baltimore, MD, USA.
[5]
Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
[6]
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
[7]
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.
[8]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
[9]
UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA.
[10]
Graduate Program in Bioinformatics and Systems Biology, University of California, San Diego, CA, USA.
[11]
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
[12]
GeneDX Holdings Corp, Stamford, CT, USA.;Foundation of Biological Data Science, Belmont, CA, USA.
[13]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.;Department of Genetics, University of Cambridge, Cambridge, UK.
[14]
The Rockefeller University, New York, NY, USA.
[15]
DNAnexus, Inc., Mountain View, CA, USA.
[16]
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
[17]
Stowers Institute for Medical Research, Kansas City, MO, USA.;University of Kansas Medical Center, Kansas City, MO, USA.
[18]
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.;Genomics Research Centre, Human Technopole, Milan, Italy.
[19]
Institute of Bioinformatics, Faculty of Medicine, University of Münster, Münster, Germany.
[20]
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.
[21]
Department of Biology, Pennsylvania State University, University Park, PA, USA.
[22]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
[23]
Institute for Systems Biology, Seattle, WA, USA.
[24]
XDBio Program, Johns Hopkins University, Baltimore, MD, USA.
[25]
Department of Bioengineering, Department of Physics, Northeastern University, Boston, MA, USA.
[26]
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
[27]
Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.;Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
[28]
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.
[29]
Genome Technology Access Center at the McDonnell Genome Institute, Washington University, St. Louis, MO, USA.
[30]
Biosystems and Biomaterials Division, National Institute of Standards and Technology, Gaithersburg, MD, USA.
[31]
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.
[32]
Center for Algorithmic Biotechnology, Saint Petersburg State University, St Petersburg, Russia.;UCL Queen Square Institute of Neurology, UCL, London, UK.
[33]
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
[34]
Stowers Institute for Medical Research, Kansas City, MO, USA.
[35]
Masters Program in National Research University Higher School of Economics, Moscow, Russia.
[36]
Departments of Biomedical Engineering, Computer Science, and Biostatistics, Johns Hopkins University, Baltimore, MD, USA.
[37]
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.;Department of Computer Science, Rice University, Houston, TX, USA.
[38]
Google Inc., Mountain View, CA, USA.
[39]
Institute of Molecular Genetics, Moscow, Russia.
[40]
Center for Evolution and Medicine, School of Life Sciences, Arizona State University, Tempe, AZ, USA.
[41]
Department of Biology, Pennsylvania State University, University Park, PA, USA.;Department of Biomedical Engineering, Pennsylvania State University, State College, PA, USA.
[42]
Pacific Biosciences, Menlo Park, CA, USA.
[43]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Investigator, Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
[44]
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.
[45]
Department of Biology, Johns Hopkins University, Baltimore, MD, USA.;Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
[46]
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.
[47]
主题词
人类(Humans);碱基序列(Base Sequence);染色体, 人, Y(Chromosomes, Human, Y);DNA, 卫星(DNA, Satellite);遗传变异(Genetic Variation);遗传学, 群体(Genetics, Population);基因组学(Genomics);异染色质(Heterochromatin);多基因族(Multigene Family);参考标准(Reference Standards);片段重复, 基因(Segmental Duplications, Genomic);序列分析, DNA(Sequence Analysis, DNA);串联重复序列(Tandem Repeat Sequences);端粒(Telomere)
DOI
10.1038/s41586-023-06457-y
PMID
37612512
发布时间
2024-11-06
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Nature
Nature
344-354页
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