المؤلفون: Kong, HH, Andersson, B, Clavel, T, Common, JE, Jackson, SA, Olson, ND, Segre, JA, Traidl-Hoffmann, C

المصدر: The Journal of investigative dermatology. 137(3):561-568

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135341007

المؤلفون: English AC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. adam.english@bcm.edu., Dolzhenko E; Pacific Biosciences of California, Menlo Park, CA, USA., Ziaei Jam H; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA., McKenzie SK; Oxford Nanopore Technologies, Inc., New York, NY, USA., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Park J; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA., Gu B; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Eberle MA; Pacific Biosciences of California, Menlo Park, CA, USA., Gymrek M; Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA, USA.; Department of Medicine, University of California, San Diego, La Jolla, CA, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Computer Science, Rice University, Houston, TX, USA. fritz.sedlazeck@bcm.edu.

المصدر: Nature biotechnology [Nat Biotechnol] 2024 Apr 26. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

المؤلفون: Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA., Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Yang L; Pacific Northwest Research Institute, Seattle, WA, USA., Snead AA; Department of Biology, New York University, New York, NY, USA., Richmond PA; Alamya Health, Baton Rouge, LA, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Human Technopole, Milan, Italy., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Anderson Z; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Storz SH; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Sinha M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México., Clarke WE; New York Genome Center, New York, NY, USA.; Outlier Informatics Inc., Saskatoon, SK, Canada., Basile AO; New York Genome Center, New York, NY, USA., Corvelo A; New York Genome Center, New York, NY, USA., Reeves C; New York Genome Center, New York, NY, USA., Helland A; New York Genome Center, New York, NY, USA., Musunuri RL; New York Genome Center, New York, NY, USA., Revsine M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Patterson KE; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Zakarian C; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA., Jensen TD; Department of Genetics, Stanford University, Stanford, CA, USA., Robb E; Department of Computer Science, Stanford University, Stanford, CA, USA., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA., Sedlazeck FJ; Human Genome Sequencing Center Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Computer Science, Rice University, Houston, TX, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA., Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, MD, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., McLaughlin RN Jr; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.; Pacific Northwest Research Institute, Seattle, WA, USA., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA., Zody MC; New York Genome Center, New York, NY, USA., Loose M; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham, England., Jain M; Department of Bioengineering, Department of Physics, Khoury College of Computer Sciences, Northeastern University, Boston, MA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.

مؤلفون مشاركون: 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 07. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Chen L; College of Information Engineering, Shanghai Maritime University, Shanghai, China., Olson ND; National Institute of Standards and Technology (NIST), Gaithersburg, MD, United States.

المصدر: Frontiers in genetics [Front Genet] 2024 Jan 25; Vol. 15, pp. 1367531. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).

نوع المنشور: Editorial

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

المؤلفون: English A, Dolzhenko E, Jam HZ, Mckenzie S, Olson ND, De Coster W, Park J, Gu B, Wagner J, Eberle MA, Gymrek M, Chaisson MJP, Zook JM, Sedlazeck FJ

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 01. Date of Electronic Publication: 2023 Nov 01.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

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: Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Dwarshuis N; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA., Sedlazeck FJ; Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA., Salit M; The MITRE Corporation, McLean, VA, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA. jzook@nist.gov.

المصدر: Nature reviews. Genetics [Nat Rev Genet] 2023 Jul; Vol. 24 (7), pp. 464-483. Date of Electronic Publication: 2023 Apr 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE

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

المؤلفون: Cleveland MH; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA. Electronic address: megan.cleveland@nist.gov., Romsos EL; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA., Steffen CR; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA., Olson ND; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA., Servetas SL; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA., Valiant WG; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA., Vallone PM; National Institute of Standards and Technology, 100 Bureau Dr, Gaithersburg, MD, 20899, USA.

المصدر: Biologicals : journal of the International Association of Biological Standardization [Biologicals] 2023 May; Vol. 82, pp. 101680. Date of Electronic Publication: 2023 May 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 9004494 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8320 (Electronic) Linking ISSN: 10451056 NLM ISO Abbreviation: Biologicals Subsets: MEDLINE

مواضيع طبية MeSH: SARS-CoV-2*/genetics , COVID-19*/diagnosis, Humans ; Pandemics ; Molecular Diagnostic Techniques/methods ; RNA, Viral/genetics ; Sensitivity and Specificity ; COVID-19 Testing

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: Tack DS; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Tonner PD; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Pressman A; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Olson ND; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Levy SF; SLAC National Accelerator Laboratory, Menlo Park, CA, United States of America.; Joint Initiative for Metrology in Biology, Stanford, CA, United States of America., Romantseva EF; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Alperovich N; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Vasilyeva O; National Institute of Standards and Technology, Gaithersburg, MD, United States of America., Ross D; National Institute of Standards and Technology, Gaithersburg, MD, United States of America.

المصدر: PloS one [PLoS One] 2023 Mar 29; Vol. 18 (3), pp. e0283548. Date of Electronic Publication: 2023 Mar 29 (Print Publication: 2023).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Machine Learning* , Synthetic Biology*/methods