Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
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| Title: | Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. |
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| Authors: | Pan B; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Ren L; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Onuchic V; Illumina Inc., San Diego, CA, 92122, USA., Guan M; SAS Institute Inc., Cary, NC, 27513, USA., Kusko R; Immuneering Corporation, Cambridge, MA, 02142, USA., Bruinsma S; Illumina Inc., San Diego, CA, 92122, USA., Trigg L; Real Time Genomics, Hamilton, New Zealand., Scherer A; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; EATRIS ERIC- European Infrastructure for Translational Medicine, Amsterdam, the Netherlands., Ning B; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Zhang C; School of Computing Sciences and Computer Engineering, University of Southern Mississippi, Hattiesburg, MS, 39406, USA., Glidewell-Kenney C; Illumina Inc., San Diego, CA, 92122, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, 20894, USA., Donaldson E; Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, 20993, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Schroth G; Illumina Inc., San Diego, CA, 92122, USA., Yavas G; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Grunenwald H; Illumina Inc., San Diego, CA, 92122, USA., Chen H; Sentieon Inc., San Jose, CA, 95134, USA., Meinholz H; Illumina Inc., San Diego, CA, 92122, USA., Meehan J; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Wang J; Center for Advanced Measurement Science, National Institute of Metrology, Beijing, 100013, China., Yang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Foox J; Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, 10021, USA., Shang J; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Miclaus K; SAS Institute Inc., Cary, NC, 27513, USA., Dong L; Center for Advanced Measurement Science, National Institute of Metrology, Beijing, 100013, China., Shi L; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Mohiyuddin M; Roche Sequencing Solutions, Santa Clara, CA, 95050, USA., Pirooznia M; Bioinformatics and Computational Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Gong P; Environmental Laboratory, U.S. Army Engineer Research and Development Center, Vicksburg, MS, 39180, USA., Golshani R; Illumina Inc., San Diego, CA, 92122, USA., Wolfinger R; SAS Institute Inc., Cary, NC, 27513, USA., Lababidi S; Office of Health Informatics, Office of the Commissioner, US Food and Drug Administration, Silver Spring, MD, 20993, USA., Sahraeian SME; Roche Sequencing Solutions, Santa Clara, CA, 95050, USA., Sherry S; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, 20894, USA., Han T; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Chen T; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Shi T; 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., Hou W; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Ge W; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Zou W; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Guo W; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Bao W; SAS Institute Inc., Cary, NC, 27513, USA., Xiao W; Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, CA, 94305, USA., Fan X; Pharmaceutical Informatics Institute, College of Pharmaceutical Sciences, Zhejiang University, Hangzhou, 310058, China., Gondo Y; Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, 259-1193, Japan., Yu Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China.; Human Phenome Institute, Fudan University, Shanghai, 200438, China., Zhao Y; CCR-SF Bioinformatics Group, Advanced Biomedical and Computational Sciences, Biomedical Informatics and Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21701, USA., Su Z; Takeda Pharmaceuticals, Cambridge, MA, 02139, USA., Liu Z; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Tong W; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA., Xiao W; Division of Molecular Genetics and Pathology, Center for Device and Radiological Health, US Food and Drug Administration, Silver Spring, MD, 20993, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, 20899, USA. justin.zook@nist.gov., Zheng Y; State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, 200438, China. zhengyuanting@fudan.edu.cn.; Human Phenome Institute, Fudan University, Shanghai, 200438, China. zhengyuanting@fudan.edu.cn., Hong H; Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA. huixiao.hong@fda.hhs.gov. |
| Source: | Genome biology [Genome Biol] 2022 Jan 03; Vol. 23 (1), pp. 2. Date of Electronic Publication: 2022 Jan 03. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1474-760X |
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| DOI: | 10.1186/s13059-021-02569-8 |