دورية أكاديمية

Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.

التفاصيل البيبلوغرافية
العنوان: Systematic assessment of long-read RNA-seq methods for transcript identification and quantification.
المؤلفون: Pardo-Palacios FJ; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain., Wang D; Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Reese F; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA, USA.; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA, USA., Diekhans M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA., Carbonell-Sala S; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain., Williams B; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA., Loveland JE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., De María M; Department of Physiological Sciences, College of Veterinary Medicine, Gainesville, FL, USA.; Cherokee Nation System Solutions, contractor to the US Geological Survey-Wetland and Aquatic Research Center, Gainesville, FL, USA., Adams MS; Department of Molecular Cell and Developmental Biology, University of California, Santa Cruz, Santa Cruz, CA, USA., Balderrama-Gutierrez G; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA, USA.; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA, USA., Behera AK; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Gonzalez Martinez JM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Hunt T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Lagarde J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Flomics Biotech, SL, Barcelona, Spain., Liang CE; Department of Molecular Cell and Developmental Biology, University of California, Santa Cruz, Santa Cruz, CA, USA., Li H; Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Meade MJ; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA, USA., Moraga Amador DA; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA., Prjibelski AD; Department of Computer Science, University of Helsinki, Helsinki, Finland.; Center for Bioinformatics and Algorithmic Biotechnology, Institute of Translational Biomedicine, St. Petersburg State University, St. Petersburg, Russia., Birol I; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada., Bostan H; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, USA., Brooks AM; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, USA., Çelik MH; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA, USA.; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA, USA., Chen Y; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Du MRM; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Felton C; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Göke J; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.; Department of Statistics and Data Science, National University of Singapore, Singapore, Singapore., Hafezqorani S; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada., Herwig R; Department Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Berlin, Germany., Kawaji H; Research Center for Genome & Medical Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Lee J; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Li JL; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, Durham, NC, USA., Lienhard M; Department Computational Molecular Biology, Max-Planck-Institute for Molecular Genetics, Berlin, Germany., Mikheenko A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Mulligan D; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Nip KM; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada., Pertea M; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Ritchie ME; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Sim AD; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore., Tang AD; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Wan YK; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.; Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Wang C; Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia., Wong BY; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA., Yang C; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, British Columbia, Canada., Barnes I; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Berry AE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Capella-Gutierrez S; Barcelona Supercomputing Center, Barcelona, Spain., Cousineau A; Program in Molecular Medicine, Diabetes Center of Excellence, University of Massachusetts Chan Medical School, Worcester, MA, USA., Dhillon N; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Fernandez-Gonzalez JM; Barcelona Supercomputing Center, Barcelona, Spain., Ferrández-Peral L; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain., Garcia-Reyero N; Energy, Installations & Environment, Office of the Assistant Secretary of Defense, Washington, DC, USA., Götz S; Biobam Bioinformatics, Valencia, Spain., Hernández-Ferrer C; Barcelona Supercomputing Center, Barcelona, Spain., Kondratova L; Genetics Institute, University of Florida, Gainesville, FL, USA., Liu T; Cardiff University, Cardiff, UK., Martinez-Martin A; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain., Menor C; Biobam Bioinformatics, Valencia, Spain., Mestre-Tomás J; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain., Mudge JM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Panayotova NG; Interdisciplinary Center for Biotechnology Research, University of Florida, Gainesville, FL, USA., Paniagua A; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain., Repchevsky D; Barcelona Supercomputing Center, Barcelona, Spain., Ren X; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Rouchka E; Department of Biochemistry & Molecular Genetics, University of Louisville, Louisville, KY, USA., Saint-John B; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA., Sapena E; European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Sheynkman L; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA, USA., Smith ML; Department of Biochemistry & Molecular Genetics, University of Louisville, Louisville, KY, USA., Suner MM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK., Takahashi H; Center for Integrative Medical Sciences, Laboratory for Transcriptome Technology, RIKEN, Yokohama, Japan., Youngworth IA; Department of Genetics, Stanford University, Palo Alto, CA, USA., Carninci P; Center for Integrative Medical Sciences, Laboratory for Transcriptome Technology, RIKEN, Yokohama, Japan.; Human Technopole, Milano, Italy., Denslow ND; Department of Physiological Sciences, College of Veterinary Medicine, Gainesville, FL, USA.; Center for Environmental and Human Toxicology, Department of Physiological Sciences, University of Florida, Gainesville, FL, USA., Guigó R; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Hunter ME; US Geological Survey, Wetland and Aquatic Research Center, Gainesville, FL, USA., Maehr R; Program in Molecular Medicine, Diabetes Center of Excellence, University of Massachusetts Chan Medical School, Worcester, MA, USA., Shen Y; Institute for Human Genetics, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Tilgner HU; Brain and Mind Research Institute and Center for Neurogenetics, Weill Cornell Medicine, New York City, NY, USA., Wold BJ; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA, USA., Vollmers C; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA. vollmers@ucsc.edu., Frankish A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus Hinxton, Cambridge, UK. frankish@ebi.ac.uk., Au KF; Department of Biomedical Informatics, The Ohio State University, Columbus, OH, USA. kinfai@med.umich.edu.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA. kinfai@med.umich.edu., Sheynkman GM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA, USA. gs9yr@virginia.edu.; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA. gs9yr@virginia.edu.; UVA Cancer Center, University of Virginia, Charlottesville, VA, USA. gs9yr@virginia.edu., Mortazavi A; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA, USA. ali.mortazavi@uci.edu.; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA, USA. ali.mortazavi@uci.edu., Conesa A; Institute for Integrative Systems Biology, Spanish National Research Council (CSIC), Paterna, Spain. ana.conesa@csic.es.; Microbiology and Cell Science Department, Institute for Food and Agricultural Sciences, University of Florida, Gainesville, FL, USA. ana.conesa@csic.es., Brooks AN; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. anbrooks@ucsc.edu.; Department of Biomolecular Engineering, University of California, Santa Cruz, Santa Cruz, CA, USA. anbrooks@ucsc.edu.
المصدر: Nature methods [Nat Methods] 2024 Jul; Vol. 21 (7), pp. 1349-1363. Date of Electronic Publication: 2024 Jun 07.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Nature Pub. Group, c2004-
مواضيع طبية MeSH: RNA-Seq*/methods , Gene Expression Profiling*/methods, Humans ; Animals ; Mice ; Transcriptome ; Sequence Analysis, RNA/methods ; Molecular Sequence Annotation/methods
مستخلص: The Long-read RNA-Seq Genome Annotation Assessment Project Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. Using different protocols and sequencing platforms, the consortium generated over 427 million long-read sequences from complementary DNA and direct RNA datasets, encompassing human, mouse and manatee species. Developers utilized these data to address challenges in transcript isoform detection, quantification and de novo transcript detection. The study revealed that libraries with longer, more accurate sequences produce more accurate transcripts than those with increased read depth, whereas greater read depth improved quantification accuracy. In well-annotated genomes, tools based on reference sequences demonstrated the best performance. Incorporating additional orthogonal data and replicate samples is advised when aiming to detect rare and novel transcripts or using reference-free approaches. This collaborative study offers a benchmark for current practices and provides direction for future method development in transcriptome analysis.
(© 2024. The Author(s).)
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معلومات مُعتمدة: R21 HG011280 United States HG NHGRI NIH HHS; R35GM138122 U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS); F31HG010999 U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI); UM1 HG009443 United States HG NHGRI NIH HHS; U41HG007234 U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI); 73023672 Saint Petersburg State University (St. Petersburg State University); WT108749/Z/15/Z Wellcome Trust (Wellcome); R01HG008759 U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI); R01HG011469 U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI); R01GM136886 U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI); R35GM14264 U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS)
تواريخ الأحداث: Date Created: 20240607 Date Completed: 20240711 Latest Revision: 20240730
رمز التحديث: 20240730
DOI: 10.1038/s41592-024-02298-3
PMID: 38849569
قاعدة البيانات: MEDLINE
الوصف
تدمد:1548-7105
DOI:10.1038/s41592-024-02298-3