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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

  1. Author:
    Fang, Li Tai
    Zhu, Bin
    Zhao,Yongmei
    Chen, Wanqiu
    Yang, Zhaowei
    Kerrigan, Liz
    Langenbach, Kurt
    de Mars, Maryellen
    Lu, Charles
    Idler, Kenneth
    Jacob, Howard
    Zheng, Yuanting
    Ren, Luyao
    Yu, Ying
    Jaeger, Erich
    Schroth, Gary P.
    Abaan, Ogan D.
    Talsania,Keyur
    Lack,Justin
    Shen,Tsai-Wei
    Chen, Zhong
    Stanbouly, Seta
    Tran,Bao
    Shetty,Jyoti
    Kriga,Yuliya
    Meerzaman, Daoud
    Nguyen, Cu
    Petitjean, Virginie
    Sultan, Marc
    Cam, Margaret
    Mehta,Monika
    Hung, Tiffany
    Peters, Eric
    Kalamegham, Rasika
    Sahraeian, Sayed Mohammad Ebrahim
    Mohiyuddin, Marghoob
    Guo, Yunfei
    Yao, Lijing
    Song, Lei
    Lam, Hugo Y. K.
    Drabek, Jiri
    Vojta, Petr
    Maestro, Roberta
    Gasparotto, Daniela
    Koks, Sulev
    Reimann, Ene
    Scherer, Andreas
    Nordlund, Jessica
    Liljedahl, Ulrika
    Jensen, Roderick
    Pirooznia, Mehdi
    Li, Zhipan
    Xiao, Chunlin
    Sherry, Stephen T.
    Kusko, Rebecca
    Moos, Malcolm
    Donaldson, Eric
    Tezak, Zivana
    Ning, Baitang
    Tong, Weida
    Li, Jing
    Duerken-Hughes, Penelope
    Catalanotti, Claudia
    Maheshwari, Shamoni
    Shuga, Joe
    Liang, Winnie S.
    Keats, Jonathan
    Adkins, Jonathan
    Tassone, Erica
    Zismann, Victoria
    McDaniel, Timothy
    Trent, Jeffrey
    Foox, Jonathan
    Butler, Daniel
    Mason, Christopher E.
    Hong, Huixiao
    Shi, Leming
    Wang, Charles
    Xiao, Wenming

  2. Author Address

    Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci, Biomed Informat & Data Sci Directorate, Frederick, MD USA.Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA 92350 USA.Guangzhou Med Univ, Affiliated Hosp 1, Guangzhou Inst Resp Hlth,Dept Allergy & Clin Immu, Natl Clin Res Ctr Resp Dis,State Key Lab Resp Dis, Guangzhou, Peoples R China.ATCC Amer Type Culture Collect, Manassas, VA USA.AbbVie, Genom Res Ctr GRC, Computat Genom, N Chicago, IL 60064 USA.Fudan Univ, Sch Life Sci, Human Phenome Inst, State Key Lab Genet Engn, Shanghai, Peoples R China.Fudan Univ, Shanghai Canc Ctr, Shanghai, Peoples R China.Illumina Inc, Foster City, CA USA.Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.NCI, Computat Genom & Bioinformat Branch, Ctr Biomed Informat & Informat Technol CBIIT, Rockville, MD USA.Novartis Inst Biomed Res, Biomarker Dev, Basel, Switzerland.Ctr Canc Res, Off Sci & Technol Resources, CCR Collaborat Bioinformat Resource CCBR, Bethesda, MD USA.Genentech Inc, San Francisco, CA 94080 USA.Palacky Univ, Fac Med & Dent, IMTM, Olomouc, Czech Republic.European Infrastruct Translat Med, Amsterdam, Netherlands.NCI, Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Oncogenet & Funct Oncogen, Aviano, Italy.Perron Inst Neurol & Translat Sci, Nedlands, WA, Australia.Univ Tartu, Estonian Genome Ctr, Inst Genom, Tartu, Estonia.Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.Uppsala Univ, Dept Med Sci, Mol Med & Sci Life Lab, Uppsala, Sweden.Virginia Tech, Dept Biol Sci, Blacksburg, VA USA.NHLBI, Bioinformat & Computat Biol Core, NIH, Bldg 10, Bethesda, MD 20892 USA.Sentieon Inc, Mountain View, CA USA.NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA.Immuneering Corp, Boston, MA USA.US FDA, Ctr Biol Evaluat & Res, Silver Spring, MD USA.US FDA, Ctr Drug Evaluat & Res, Silver Spring, MD USA.US FDA, Ctr Devices & Radiol Hlth, Silver Spring, MD 20993 USA.US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA.Loma Linda Univ, Sch Med, Dept Basic Sci, Loma Linda, CA 92350 USA.10x Genom, Pleasanton, CA USA.Translat Genom Res Inst, Phoenix, AZ USA.Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.
    1. Year: 2021
    2. Date: Sep
    3. Epub Date: 2021 09 09
  2. Journal: Nature biotechnology
  3. NATURE PORTFOLIO,
    1. 39
    2. 9
    3. Pages: 1151-1160
  5. Type of Article: Article
  6. ISSN: 1087-0156
  1. Abstract:

    Tumor-normal paired DNA samples from a breast cancer cell line and a matched lymphoblastoid cell line enable calibration of clinical sequencing pipelines and benchmarking 'tumor-only' or 'matched tumor-normal' analyses.

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  1. Keywords:

External Sources

  1. View Full Text
  2. DOI: 10.1038/s41587-021-00993-6
  3. PMID: 34504347
  4. PMCID: PMC8532138
  5. View record in Web of Science®
  6. WOS: 000694844000026

Library Notes

  1. Fiscal Year: FY2021-2022
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