The complete sequence of a human genome.

Autor: 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.

Publikováno v: Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. 44-53. Date of Electronic Publication: 2022 Mar 31.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Autor: Pehlivan, Davut^1,2,3,4 (AUTHOR) pehlivan@bcm.edu, Bengtsson, Jesse D.⁵ (AUTHOR), Bajikar, Sameer S.^2,4 (AUTHOR), Grochowski, Christopher M.^2,6 (AUTHOR), Lun, Ming Yin⁵ (AUTHOR), Gandhi, Mira⁵ (AUTHOR), Jolly, Angad² (AUTHOR), Trostle, Alexander J.^3,4 (AUTHOR), Harris, Holly K.^3,7 (AUTHOR), Suter, Bernhard^1,3 (AUTHOR), Aras, Sukru⁴ (AUTHOR), Ramocki, Melissa B.^1,8 (AUTHOR), Du, Haowei² (AUTHOR), Mehaffey, Michele G.⁵ (AUTHOR), Park, KyungHee⁵ (AUTHOR), Wilkey, Ellen⁵ (AUTHOR), Karakas, Cemal⁹ (AUTHOR), Eisfeldt, Jesper J.¹⁰ (AUTHOR), Pettersson, Maria¹⁰ (AUTHOR), Liu, Lynn¹¹ (AUTHOR)

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Contamination Survey of Insect Genomic and Transcriptomic Data.

Autor: Zhou, Jiali¹ (AUTHOR) 15395870850@163.com, Zhang, Xinrui¹ (AUTHOR), Wang, Yujie¹ (AUTHOR), Liang, Haoxian¹ (AUTHOR), Yang, Yuhao¹ (AUTHOR), Huang, Xiaolei¹ (AUTHOR) huangxl@fafu.edu.cn, Deng, Jun¹ (AUTHOR) huangxl@fafu.edu.cn

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Train and Reprogram Your Brain: Effects of Physical Exercise at Different Stages of Life on Brain Functions Saved in Epigenetic Modifications.

Autor: Kukla-Bartoszek, Magdalena¹ (AUTHOR) mkuklaba@if-pan.krakow.pl, Głombik, Katarzyna¹ (AUTHOR) glombik@if-pan.krakow.pl

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A hybrid genome assembly of the endangered aye-aye (Daubentonia madagascariensis).

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