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Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods.

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第一作者： Brian J,Haas

第一单位： Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. bhaas@broadinstitute.org.

作者： Brian J,Haas ^[1] ; Alexander,Dobin ^[2] ; Bo,Li ^[3] ; Nicolas,Stransky ^[4] ; Nathalie,Pochet ^[5] ; Aviv,Regev ^[6]

作者单位： Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. bhaas@broadinstitute.org. ^[1] Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 11724, USA. ^[2] Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.;Center for Immunology and Inflammatory Diseases, Division of Rheumatology, Allergy, and Immunology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02129, USA. ^[3] Celsius Therapeutics, Cambridge, MA, 02139, USA. ^[4] Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.;Ann Romney Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA. ^[5] Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.;Howard Hughes Medical Institute, and Koch Institute for Integrative Cancer Research, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02140, USA. ^[6]

关键词 Benchmarking Cancer Fusion RNA-seq STAR-Fusion TrinityFusion

医学主题词规范(Benchmarking);基因融合(Gene Fusion);基因组学(Genomics);肿瘤(Neoplasms);序列分析, RNA(Sequence Analysis, RNA);软件(Software)

DOI 10.1186/s13059-019-1842-9

PMID 31639029

发布时间 2024-04-21

基金项目

U01CA214846/CA/NCI NIH HHS/United States R21 CA209940/CA/NCI NIH HHS/United States U24CA180922/CA/NCI NIH HHS/United States R50CA211461/CA/NCI NIH HHS/United States P30 CA045508/CA/NCI NIH HHS/United States R50 CA211461/CA/NCI NIH HHS/United States U01 CA214846/CA/NCI NIH HHS/United States U24 CA180922/CA/NCI NIH HHS/United States R01 HG009318/HG/NHGRI NIH HHS/United States R21CA209940/CA/NCI NIH HHS/United States R03 AI131066/AI/NIAID NIH HHS/United States

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