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Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.

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第一作者: Bohu,Pan
第一单位: Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.
作者单位: Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA. [1] State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China. [2] Human Phenome Institute, Fudan University, Shanghai, 200438, China. [3] Illumina Inc., San Diego, CA, 92122, USA. [4] SAS Institute Inc., Cary, NC, 27513, USA. [5] Immuneering Corporation, Cambridge, MA, 02142, USA. [6] Real Time Genomics, Hamilton, New Zealand. [7] Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. [8] EATRIS ERIC- European Infrastructure for Translational Medicine, Amsterdam, the Netherlands. [9] School of Computing Sciences and Computer Engineering, University of Southern Mississippi, Hattiesburg, MS, 39406, USA. [10] National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, 20894, USA. [11] Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, 20993, USA. [12] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. [13] Sentieon Inc., San Jose, CA, 95134, USA. [14] Center for Advanced Measurement Science, National Institute of Metrology, Beijing, 100013, China. [15] Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, 10021, USA. [16] Roche Sequencing Solutions, Santa Clara, CA, 95050, USA. [17] Bioinformatics and Computational Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA. [18] Environmental Laboratory, U.S. Army Engineer Research and Development Center, Vicksburg, MS, 39180, USA. [19] Office of Health Informatics, Office of the Commissioner, US Food and Drug Administration, Silver Spring, MD, 20993, USA. [20] The Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, 200241, China. [21] Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, CA, 94305, USA. [22] Pharmaceutical Informatics Institute, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, 310058, China. [23] Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, 259-1193, Japan. [24] CCR-SF Bioinformatics Group, Advanced Biomedical and Computational Sciences, Biomedical Informatics and Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21701, USA. [25] Takeda Pharmaceuticals, Cambridge, MA, 02139, USA. [26] Division of Molecular Genetics and Pathology, Center for Device and Radiological Health, US Food and Drug Administration, Silver Spring, MD, 20993, USA. [27] Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, 20899, USA. justin.zook@nist.gov. [28] State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China. zhengyuanting@fudan.edu.cn. [29] Human Phenome Institute, Fudan University, Shanghai, 200438, China. zhengyuanting@fudan.edu.cn. [30] Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA. huixiao.hong@fda.hhs.gov. [31]
DOI 10.1186/s13059-021-02569-8
PMID 34980216
发布时间 2024-04-05
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