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Towards accurate indel calling for oncopanel sequencing through an international pipeline competition at precisionFDA.

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第一作者： Binsheng,Gong

第一单位： Division of Bioinformatics and Biostatistics, Office of Research, National Center for Toxicological Research, Office of the Chief Scientist, Office of the Commissioner, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA.

作者： Binsheng,Gong ^[1] ; Samir,Lababidi ^[2] ; Rebecca,Kusko ^[3] ; Khaled,Bouri ^[4] ; Sarah,Prezek ^[5] ; Vishal,Thovarai ^[5] ; Anish,Prasanna ^[5] ; Ezekiel J,Maier ^[5] ; Mahdi,Golkaram ^[6] ; Xingqiang,Sun ^[7] ; Konstantinos,Kyriakidis ^[8] ; João Paulo,Kitajima ^[9] ; Sayed Mohammad,Ebrahim Sahraeian ^[10] ; Yunfei,Guo ^[10] ; Elaine,Johanson ^[2] ; Wendell,Jones ^[11] ; Weida,Tong ^[1] ; Joshua,Xu ^[12]

作者单位： Division of Bioinformatics and Biostatistics, Office of Research, National Center for Toxicological Research, Office of the Chief Scientist, Office of the Commissioner, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA. ^[1] Health Informatics Staff, Office of Data, Analytics, and Research, Office of Digital Transformation, Office of the Commissioner, U.S. Food and Drug Administration, Silver Spring, MD, 20993, USA. ^[2] Cellino Biotech, 750 Main Street, Cambridge, MA, 02143, USA. ^[3] Office of Regulatory Science and Innovation, Office of the Chief Scientist, Office of the Commissioner, U.S. Food and Drug Administration, Silver Spring, MD, 20993, USA. ^[4] Booz Allen Hamilton, McLean, VA, 22102, USA. ^[5] Illumina, Inc., San Diego, CA, 92122, USA. ^[6] Genetalks, Changsha, Hunan, China. ^[7] UC Santa Cruz Genomics Institute, Santa Cruz, CA, 95060, USA. ^[8] Mendelics, Av. Braz Leme, 1631-Santana, São Paulo, SP, 02511-000, Brazil. ^[9] Roche Sequencing Solutions, Santa Clara, CA, 95050, USA. ^[10] Q squared Solutions Genomics, 2400 Elis Road, Durham, NC, 27703, USA. ^[11] Division of Bioinformatics and Biostatistics, Office of Research, National Center for Toxicological Research, Office of the Chief Scientist, Office of the Commissioner, U.S. Food and Drug Administration, Jefferson, AR, 72079, USA. Joshua.Xu@fda.hhs.gov. ^[12]

关键词 Indel calling pipeline Next-generation sequencing Personalized medicine Precision medicine precisionFDA challenge

医学主题词 INDEL突变(INDEL Mutation);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);多态性, 单核苷酸(Polymorphism, Single Nucleotide)

DOI 10.1038/s41598-024-58573-y

PMID 38589653

发布时间 2024-04-11

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