换一批A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.
第一作者：
Wendell,Jones
第一单位：
Q2 Solutions - EA Genomics, 5927 S Miami Blvd., Morrisville, NC, 27560, USA. Wendell.Jones@q2labsolutions.com.
作者：
Wendell,Jones [1]
;
Binsheng,Gong [2]
;
Natalia,Novoradovskaya [3]
;
Dan,Li [2]
;
Rebecca,Kusko [4]
;
Todd A,Richmond [5]
;
Donald J,Johann [6]
;
Halil,Bisgin [7]
;
Sayed Mohammad Ebrahim,Sahraeian [8]
;
Pierre R,Bushel [9]
;
Mehdi,Pirooznia [10]
;
Katherine,Wilkins [11]
;
Marco,Chierici [12]
;
Wenjun,Bao [13]
;
Lee Scott,Basehore [3]
;
Anne Bergstrom,Lucas [11]
;
Daniel,Burgess [14]
;
Daniel J,Butler [15]
;
Simon,Cawley [16]
;
Chia-Jung,Chang [17]
;
Guangchun,Chen [18]
;
Tao,Chen [19]
;
Yun-Ching,Chen [10]
;
Daniel J,Craig [20]
;
Angela,Del Pozo [21]
;
Jonathan,Foox [15]
;
Margherita,Francescatto [12]
;
Yutao,Fu [22]
;
Cesare,Furlanello [12]
;
Kristina,Giorda [23]
;
Kira P,Grist [24]
;
Meijian,Guan [13]
;
Yingyi,Hao [25]
;
Scott,Happe [26]
;
Gunjan,Hariani [24]
;
Nathan,Haseley [27]
;
Jeff,Jasper [24]
;
Giuseppe,Jurman [12]
;
David Philip,Kreil [28]
;
Paweł,Łabaj [29]
;
Kevin,Lai [30]
;
Jianying,Li [31]
;
Quan-Zhen,Li [18]
;
Yulong,Li [32]
;
Zhiguang,Li [32]
;
Zhichao,Liu [2]
;
Mario Solís,López [33]
;
Kelci,Miclaus [13]
;
Raymond,Miller [11]
;
Vinay K,Mittal [22]
;
Marghoob,Mohiyuddin [8]
;
Carlos,Pabón-Peña [11]
;
Barbara L,Parsons [34]
;
Fujun,Qiu [35]
;
Andreas,Scherer [36]
;
Tieliu,Shi [37]
;
Suzy,Stiegelmeyer [38]
;
Chen,Suo [39]
;
Nikola,Tom [40]
;
Dong,Wang [2]
;
Zhining,Wen [25]
;
Leihong,Wu [2]
;
Wenzhong,Xiao [41]
;
Chang,Xu [42]
;
Ying,Yu [43]
;
Jiyang,Zhang [43]
;
Yifan,Zhang [44]
;
Zhihong,Zhang [35]
;
Yuanting,Zheng [45]
;
Christopher E,Mason [15]
;
James C,Willey [46]
;
Weida,Tong [2]
;
Leming,Shi [47]
;
Joshua,Xu [48]
作者单位：
Q2 Solutions - EA Genomics, 5927 S Miami Blvd., Morrisville, NC, 27560, USA. Wendell.Jones@q2labsolutions.com.
[1]
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.
[2]
Agilent Technologies, 11011 N Torrey Pines Rd., La Jolla, CA, 92037, USA.
[3]
Immuneering Corporation, One Broadway, 14th Floor, Cambridge, MA, 02142, USA.
[4]
Market & Application Development Bioinformatics, Roche Sequencing Solutions Inc., 4300 Hacienda Dr., Pleasanton, CA, 94588, USA.
[5]
Winthrop P Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, 4301 W Markham St., Little Rock, AR, 72205, USA.
[6]
Department of Computer Science, Engineering and Physics, University of Michigan-Flint, Flint, MI, 48502, USA.
[7]
Bioinformatics Research & Early Development, Roche Sequencing Solutions Inc., 1301 Shoreway Rd., Suite 7 #300, Belmont, CA, 94002, USA.
[8]
National Institute of Environmental Health Sciences, Research Triangle Park, Durham, NC, 27709, USA.
[9]
Bioinformatics and Computational Biology Laboratory, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
[10]
Agilent Technologies, 5301 Stevens Creek Blvd., Santa Clara, CA, 95051, USA.
[11]
Fondazione Bruno Kessler, 38123, Trento, Italy.
[12]
JMP Life Sciences, SAS Institute Inc., Cary, NC, 27519, USA.
[13]
(formerly) Research and Development, Roche Sequencing Solutions Inc., 500 South Rosa Rd., Madison, WI, 53719, USA.
[14]
Department of Physiology and Biophysics, Weill Cornell Medicine, Cornell University, New York, NY, 10065, USA.
[15]
(formerly) Clinical Sequencing Division, Thermo Fisher Scientific, 180 Oyster Point Blvd., South San Francisco, CA, 94080, USA.
[16]
Stanford Genome Technology Center, Stanford University, Palo Alto, CA, 94304, USA.
[17]
Department of Immunology, Genomics and Microarray Core Facility, University of Texas Southwestern Medical Center, 5323 Harry Hine Blvd., Dallas, TX, 75390, USA.
[18]
University of Texas Southwestern Medical Center, 2330 Inwood Rd., Dallas, TX, 75390, USA.
[19]
Department of Medicine, College of Medicine and Life Sciences, The University of Toledo, Toledo, OH, 43614, USA.
[20]
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, CIBERER Instituto de Salud Carlos III, 28046, Madrid, Spain.
[21]
Thermo Fisher Scientific, 110 Miller Ave., Ann Arbor, MI, 48104, USA.
[22]
Marketing, Integrated DNA Technologies, Inc., 1710 Commercial Park, Coralville, IA, 52241, USA.
[23]
Q2 Solutions - EA Genomics, 5927 S Miami Blvd., Morrisville, NC, 27560, USA.
[24]
College of Chemistry, Sichuan University, Chengdu, 610064, Sichuan, China.
[25]
Agilent Technologies, 1834 State Hwy 71 West, Cedar Creek, TX, 78612, USA.
[26]
Illumina Inc., 5200 Illumina Way, San Diego, CA, 92122, USA.
[27]
Bioinformatics Research, Institute of Molecular Biotechnology, Boku University Vienna, Vienna, Austria.
[28]
Małopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland.;Department of Biotechnology, Boku University, Vienna, Austria.
[29]
Bioinformatics, Integrated DNA Technologies, Inc., 1710 Commercial Park, Coralville, IA, 52241, USA.
[30]
Kelly Government Solutions, Inc., Research Triangle Park, NC, 27709, USA.
[31]
Center of Genome and Personalized Medicine, Institute of Cancer Stem Cell, Dalian Medical University, Dalian, Liaoning, China.
[32]
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, CIBERER Instituto de Salud Carlos III, 28046, Madrid, Spain.;EATRIS ERIC- European Infrastructure for Translational Medicine, De Boelelaan 1118, 1081, HZ, Amsterdam, The Netherlands.
[33]
Division of Genetic and Molecular Toxicology, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.
[34]
Research and Development, Burning Rock Biotech, Shanghai, 201114, China.
[35]
EATRIS ERIC- European Infrastructure for Translational Medicine, De Boelelaan 1118, 1081, HZ, Amsterdam, The Netherlands.;Institute for Molecular Medicine Finland (FIMM), Nordic EMBL Partnership for Molecular Medicine, HiLIFE Unit, Biomedicum Helsinki 2U (D302b), FI-00014 University of Helsinki, P.O. Box 20 (Tukholmankatu 8), Helsinki, Finland.
[36]
Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, 500 Dongchuan Rd, Shanghai, 200241, China.
[37]
University of North Carolina Health, 101 Manning Drive, Chapel Hill, NC, 27514, USA.
[38]
Department of Epidemiology, School of Public Health, Fudan University, Shanghai, China.
[39]
EATRIS ERIC- European Infrastructure for Translational Medicine, De Boelelaan 1118, 1081, HZ, Amsterdam, The Netherlands.;Center of Molecular Medicine, Central European Institute of Technology, Masaryk University, Kamenice 5, 625 00, Brno, Czech Republic.
[40]
Stanford Genome Technology Center, Stanford University, Palo Alto, CA, 94304, USA.;Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
[41]
Research and Development, QIAGEN Sciences Inc., Frederick, MD, 21703, USA.
[42]
State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200438, China.
[43]
University of Arkansas at Little Rock, Little Rock, AR, 72204, USA.
[44]
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA.;State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200438, China.
[45]
Departments of Medicine, Pathology, and Cancer Biology, College of Medicine and Life Sciences, University of Toledo Health Sciences Campus, 3000 Arlington Ave, Toledo, OH, 43614, USA.
[46]
State Key Laboratory of Genetic Engineering, School of Life Sciences and Shanghai Cancer Hospital/Cancer Institute, Fudan University, Shanghai, 200438, China.;Human Phenome Institute, Fudan University, Shanghai, 201203, China.;Fudan-Gospel Joint Research Center for Precision Medicine, Fudan University, Shanghai, 200438, China.
[47]
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, Jefferson, AR, 72079, USA. Joshua.xu@fda.hhs.gov.
[48]
医学主题词
等位基因(Alleles);细胞系, 肿瘤(Cell Line, Tumor);DNA拷贝数变异(DNA Copy Number Variations);基因频率(Gene Frequency);遗传异质性(Genetic Heterogeneity);基因检测(Genetic Testing);遗传变异(Genetic Variation);基因组学(Genomics);人类(Humans);肿瘤(Neoplasms);工作流(Workflow)
DOI
10.1186/s13059-021-02316-z
PMID
33863366
发布时间
2024-03-31
- 浏览5
Genome biology
Genome biology
111页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
