Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
作者:
Li Tai,Fang [1]
;
Bin,Zhu [2]
;
Yongmei,Zhao [3]
;
Wanqiu,Chen [4]
;
Zhaowei,Yang [5]
;
Liz,Kerrigan [6]
;
Kurt,Langenbach [6]
;
Maryellen,de Mars [6]
;
Charles,Lu [7]
;
Kenneth,Idler [7]
;
Howard,Jacob [7]
;
Yuanting,Zheng [8]
;
Luyao,Ren [8]
;
Ying,Yu [8]
;
Erich,Jaeger [9]
;
Gary P,Schroth [9]
;
Ogan D,Abaan [9]
;
Keyur,Talsania [3]
;
Justin,Lack [3]
;
Tsai-Wei,Shen [3]
;
Zhong,Chen [4]
;
Seta,Stanbouly [4]
;
Bao,Tran [10]
;
Jyoti,Shetty [10]
;
Yuliya,Kriga [10]
;
Daoud,Meerzaman [11]
;
Cu,Nguyen [11]
;
Virginie,Petitjean [12]
;
Marc,Sultan [12]
;
Margaret,Cam [13]
;
Monika,Mehta [10]
;
Tiffany,Hung [14]
;
Eric,Peters [14]
;
Rasika,Kalamegham [14]
;
Sayed Mohammad Ebrahim,Sahraeian [1]
;
Marghoob,Mohiyuddin [1]
;
Yunfei,Guo [1]
;
Lijing,Yao [1]
;
Lei,Song [2]
;
Hugo Y K,Lam [1]
;
Jiri,Drabek [15]
;
Petr,Vojta [15]
;
Roberta,Maestro [16]
;
Daniela,Gasparotto [16]
;
Sulev,Kõks [17]
;
Ene,Reimann [18]
;
Andreas,Scherer [19]
;
Jessica,Nordlund [20]
;
Ulrika,Liljedahl [20]
;
Roderick V,Jensen [21]
;
Mehdi,Pirooznia [22]
;
Zhipan,Li [23]
;
Chunlin,Xiao [24]
;
Stephen T,Sherry [24]
;
Rebecca,Kusko [25]
;
Malcolm,Moos [26]
;
Eric,Donaldson [27]
;
Zivana,Tezak [28]
;
Baitang,Ning [29]
;
Weida,Tong [29]
;
Jing,Li [30]
;
Penelope,Duerken-Hughes [31]
;
Claudia,Catalanotti [32]
;
Shamoni,Maheshwari [32]
;
Joe,Shuga [32]
;
Winnie S,Liang [33]
;
Jonathan,Keats [33]
;
Jonathan,Adkins [33]
;
Erica,Tassone [33]
;
Victoria,Zismann [33]
;
Timothy,McDaniel [33]
;
Jeffrey,Trent [33]
;
Jonathan,Foox [34]
;
Daniel,Butler [34]
;
Christopher E,Mason [34]
;
Huixiao,Hong [35]
;
Leming,Shi [36]
;
Charles,Wang [37]
;
Wenming,Xiao [38]
;
Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium
作者单位:
Bioinformatics Research & Early Development, Roche Sequencing Solutions Inc., Belmont, CA, USA.
[1]
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
[2]
Advanced Biomedical and Computational Sciences, Biomedical Informatics and Data Science Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
[3]
Center for Genomics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
[4]
Center for Genomics, Loma Linda University School of Medicine, Loma Linda, CA, USA.;Department of Allergy and Clinical Immunology, State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
[5]
ATCC (American Type Culture Collection), Manassas, VA, USA.
[6]
Computational Genomics, Genomics Research Center (GRC), AbbVie, North Chicago, IL, USA.
[7]
State Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, China.
[8]
Illumina Inc., Foster City, CA, USA.
[9]
Sequencing Facility, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
[10]
Computational Genomics and Bioinformatics Branch, Center for Biomedical Informatics and Information Technology (CBIIT), National Cancer Institute, Rockville, MD, USA.
[11]
Biomarker Development, Novartis Institutes for Biomedical Research, Basel, Switzerland.
[12]
CCR Collaborative Bioinformatics Resource (CCBR), Office of Science and Technology Resources, Center for Cancer Research, Bethesda, MD, USA.
[13]
Genentech, a member of the Roche group, South San Francisco, CA, USA.
[14]
IMTM, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.;European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.
[15]
European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.;Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, National Cancer Institute, Unit of Oncogenetics and Functional Oncogenomics, Aviano, Italy.
[16]
European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.;Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, Australia.;Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
[17]
European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.;Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
[18]
European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.;Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
[19]
European Infrastructure for Translational Medicine, Amsterdam, the Netherlands.;Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
[20]
Department of Biological Sciences, Virginia Tech, Blacksburg, VA, USA.
[21]
Bioinformatics and Computational Biology Core, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
[22]
Sentieon Inc., Mountain View, CA, USA.
[23]
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
[24]
Immuneering Corporation, Boston, MA, USA.
[25]
Center for Biologics Evaluation and Research, FDA, Silver Spring, MD, USA.
[26]
Center for Drug Evaluation and Research, FDA, Silver Spring, MD, USA.
[27]
Center for Devices and Radiological Health, FDA, Silver Spring, MD, USA.
[28]
National Center for Toxicological Research, FDA, Jefferson, AR, USA.
[29]
Department of Allergy and Clinical Immunology, State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
[30]
Department of Basic Science, Loma Linda University School of Medicine, Loma Linda, CA, USA.
[31]
10x Genomics, Pleasanton, CA, USA.
[32]
Translational Genomics Research Institute, Phoenix, AZ, USA.
[33]
Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY, USA.
[34]
National Center for Toxicological Research, FDA, Jefferson, AR, USA. huixiao.hong@fda.hhs.gov.
[35]
State Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences and Shanghai Cancer Center, Fudan University, Shanghai, China. lemingshi@fudan.edu.cn.
[36]
Center for Genomics, Loma Linda University School of Medicine, Loma Linda, CA, USA. oxwang@gmail.com.;Department of Basic Science, Loma Linda University School of Medicine, Loma Linda, CA, USA. oxwang@gmail.com.
[37]
Center for Devices and Radiological Health, FDA, Silver Spring, MD, USA. wenming.xiao@fda.hhs.gov.
[38]
主题词
规范(Benchmarking);乳腺肿瘤(Breast Neoplasms);细胞系, 肿瘤(Cell Line, Tumor);DNA突变分析(DNA Mutational Analysis);生殖细胞(Germ Cells);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);突变(Mutation);参考标准(Reference Standards);结果可重复性(Reproducibility of Results)
DOI
10.1038/s41587-021-00993-6
PMID
34504347
发布时间
2024-09-23
- 浏览1

Nature biotechnology
Nature biotechnology
1151-1160页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文