WFRF:(Lack D.)
Sökning: WFRF:(Lack D.) > Establishing commun...
LIBRIS Formathandbok (Information om MARC21)
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 12172naa a2201237 4500 | |
| 001 | oai:DiVA.org:uu-456856 | |
| 003 | SwePub | |
| 008 | 211025s2021 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4568562 URI |
| 024 | 7 | a https://doi.org/10.1038/s41587-021-00993-62 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Fang, Li Taiu Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 245 | 1 0 | a Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing |
| 264 | c 2021-09-09 | |
| 264 | 1 | b Springer Nature,c 2021 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics. Here, we describe reference call sets obtained from paired tumor-normal genomic DNA (gDNA) samples derived from a breast cancer cell line-which is highly heterogeneous, with an aneuploid genome, and enriched in somatic alterations-and a matched lymphoblastoid cell line. We partially validated both somatic mutations and germline variants in these call sets via whole-exome sequencing (WES) with different sequencing platforms and targeted sequencing with >2,000-fold coverage, spanning 82% of genomic regions with high confidence. Although the gDNA reference samples are not representative of primary cancer cells from a clinical sample, when setting up a sequencing pipeline, they not only minimize potential biases from technologies, assays and informatics but also provide a unique resource for benchmarking 'tumor-only' or 'matched tumor-normal' analyses. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 700 | 1 | a Zhu, Binu NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.4 aut |
| 700 | 1 | a Zhao, Yongmeiu Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci, Biomed Informat & Data Sci Directorate, Frederick, MD USA.4 aut |
| 700 | 1 | a Chen, Wanqiuu Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA 92350 USA.4 aut |
| 700 | 1 | a Yang, Zhaoweiu 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.4 aut |
| 700 | 1 | a Kerrigan, Lizu ATCC Amer Type Culture Collect, Manassas, VA USA.4 aut |
| 700 | 1 | a Langenbach, Kurtu ATCC Amer Type Culture Collect, Manassas, VA USA.4 aut |
| 700 | 1 | a de Mars, Maryellenu ATCC Amer Type Culture Collect, Manassas, VA USA.4 aut |
| 700 | 1 | a Lu, Charlesu AbbVie, Genom Res Ctr GRC, Computat Genom, N Chicago, IL 60064 USA.4 aut |
| 700 | 1 | a Idler, Kennethu AbbVie, Genom Res Ctr GRC, Computat Genom, N Chicago, IL 60064 USA.4 aut |
| 700 | 1 | a Jacob, Howardu AbbVie, Genom Res Ctr GRC, Computat Genom, N Chicago, IL 60064 USA.4 aut |
| 700 | 1 | a Zheng, Yuantingu 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.4 aut |
| 700 | 1 | a Ren, Luyaou 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.4 aut |
| 700 | 1 | a Yu, Yingu 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.4 aut |
| 700 | 1 | a Jaeger, Erichu Illumina Inc, Foster City, CA USA.4 aut |
| 700 | 1 | a Schroth, Gary P.u Illumina Inc, Foster City, CA USA.4 aut |
| 700 | 1 | a Abaan, Ogan D.u Illumina Inc, Foster City, CA USA.4 aut |
| 700 | 1 | a Talsania, Keyuru Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci, Biomed Informat & Data Sci Directorate, Frederick, MD USA.4 aut |
| 700 | 1 | a Lack, Justinu Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci, Biomed Informat & Data Sci Directorate, Frederick, MD USA.4 aut |
| 700 | 1 | a Shen, Tsai-Weiu Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci, Biomed Informat & Data Sci Directorate, Frederick, MD USA.4 aut |
| 700 | 1 | a Chen, Zhongu Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA 92350 USA.4 aut |
| 700 | 1 | a Stanbouly, Setau Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA 92350 USA.4 aut |
| 700 | 1 | a Tran, Baou Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.4 aut |
| 700 | 1 | a Shetty, Jyotiu Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.4 aut |
| 700 | 1 | a Kriga, Yuliyau Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.4 aut |
| 700 | 1 | a Meerzaman, Daoudu NCI, Computat Genom & Bioinformat Branch, Ctr Biomed Informat & Informat Technol CBIIT, Rockville, MD USA.4 aut |
| 700 | 1 | a Nguyen, Cuu NCI, Computat Genom & Bioinformat Branch, Ctr Biomed Informat & Informat Technol CBIIT, Rockville, MD USA.4 aut |
| 700 | 1 | a Petitjean, Virginieu Novartis Inst Biomed Res, Biomarker Dev, Basel, Switzerland.4 aut |
| 700 | 1 | a Sultan, Marcu Novartis Inst Biomed Res, Biomarker Dev, Basel, Switzerland.4 aut |
| 700 | 1 | a Cam, Margaretu Ctr Canc Res, Off Sci & Technol Resources, CCR Collaborat Bioinformat Resource CCBR, Bethesda, MD USA.4 aut |
| 700 | 1 | a Mehta, Monikau Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.4 aut |
| 700 | 1 | a Hung, Tiffanyu Genentech Inc, San Francisco, CA 94080 USA.4 aut |
| 700 | 1 | a Peters, Ericu Genentech Inc, San Francisco, CA 94080 USA.4 aut |
| 700 | 1 | a Kalamegham, Rasikau Genentech Inc, San Francisco, CA 94080 USA.4 aut |
| 700 | 1 | a Sahraeian, Sayed Mohammad Ebrahimu Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 700 | 1 | a Mohiyuddin, Marghoobu Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 700 | 1 | a Guo, Yunfeiu Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 700 | 1 | a Yao, Lijingu Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 700 | 1 | a Song, Leiu NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.4 aut |
| 700 | 1 | a Lam, Hugo Y. K.u Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.4 aut |
| 700 | 1 | a Drabek, Jiriu Palacky Univ, Fac Med & Dent, IMTM, Olomouc, Czech Republic.;European Infrastruct Translat Med, Amsterdam, Netherlands.4 aut |
| 700 | 1 | a Vojta, Petru European Infrastruct Translat Med, Amsterdam, Netherlands.;NCI, Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Oncogenet & Funct Oncogen, Aviano, Italy.4 aut |
| 700 | 1 | a Maestro, Robertau European Infrastruct Translat Med, Amsterdam, Netherlands.;NCI, Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Oncogenet & Funct Oncogen, Aviano, Italy.4 aut |
| 700 | 1 | a Gasparotto, Danielau European Infrastruct Translat Med, Amsterdam, Netherlands.;Perron Inst Neurol & Translat Sci, Nedlands, WA, Australia.;Univ Tartu, Estonian Genome Ctr, Inst Genom, Tartu, Estonia.4 aut |
| 700 | 1 | a Koks, Sulevu European Infrastruct Translat Med, Amsterdam, Netherlands.;Univ Tartu, Estonian Genome Ctr, Inst Genom, Tartu, Estonia.4 aut |
| 700 | 1 | a Reimann, Eneu European Infrastruct Translat Med, Amsterdam, Netherlands.;Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.4 aut |
| 700 | 1 | a Scherer, Andreasu European Infrastruct Translat Med, Amsterdam, Netherlands.;Uppsala Univ, Dept Med Sci, Mol Med & Sci Life Lab, Uppsala, Sweden.4 aut |
| 700 | 1 | a Nordlund, Jessicau Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,European Infrastruct Translat Med, Amsterdam, Netherlands; Biomarker Development, Novartis Institutes for Biomedical Research, Basel, Switzerland4 aut0 (Swepub:uu)jesno775 |
| 700 | 1 | a Liljedahl, Ulrikau Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,European Infrastruct Translat Med, Amsterdam, Netherlands4 aut0 (Swepub:uu)ullil257 |
| 700 | 1 | a Jensen, Roderick, Vu Virginia Tech, Dept Biol Sci, Blacksburg, VA USA.4 aut |
| 700 | 1 | a Pirooznia, Mehdiu NHLBI, Bioinformat & Computat Biol Core, NIH, Bldg 10, Bethesda, MD 20892 USA.4 aut |
| 700 | 1 | a Li, Zhipanu Sentieon Inc, Mountain View, CA USA.4 aut |
| 700 | 1 | a Xiao, Chunlinu NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA.4 aut |
| 700 | 1 | a Sherry, Stephen T.u NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA.4 aut |
| 700 | 1 | a Kusko, Rebeccau Immuneering Corp, Boston, MA USA.4 aut |
| 700 | 1 | a Moos, Malcolmu US FDA, Ctr Biol Evaluat & Res, Silver Spring, MD USA.4 aut |
| 700 | 1 | a Donaldson, Ericu US FDA, Ctr Drug Evaluat & Res, Silver Spring, MD USA.4 aut |
| 700 | 1 | a Tezak, Zivanau US FDA, Ctr Devices & Radiol Hlth, Silver Spring, MD 20993 USA.4 aut |
| 700 | 1 | a Ning, Baitangu US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA.4 aut |
| 700 | 1 | a Tong, Weidau US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA.4 aut |
| 700 | 1 | a Li, Jingu 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.4 aut |
| 700 | 1 | a Duerken-Hughes, Penelopeu Loma Linda Univ, Sch Med, Dept Basic Sci, Loma Linda, CA 92350 USA.4 aut |
| 700 | 1 | a Catalanotti, Claudiau 10x Genom, Pleasanton, CA USA.4 aut |
| 700 | 1 | a Maheshwari, Shamoniu 10x Genom, Pleasanton, CA USA.4 aut |
| 700 | 1 | a Shuga, Joeu 10x Genom, Pleasanton, CA USA.4 aut |
| 700 | 1 | a Liang, Winnie S.u Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Keats, Jonathanu Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Adkins, Jonathanu Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Tassone, Ericau Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Zismann, Victoriau Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a McDaniel, Timothyu Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Trent, Jeffreyu Translat Genom Res Inst, Phoenix, AZ USA.4 aut |
| 700 | 1 | a Foox, Jonathanu Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.4 aut |
| 700 | 1 | a Butler, Danielu Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.4 aut |
| 700 | 1 | a Mason, Christopher E.u Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.4 aut |
| 700 | 1 | a Hong, Huixiaou US FDA, Natl Ctr Toxicol Res, Jefferson, AR 72079 USA.4 aut |
| 700 | 1 | a Shi, Lemingu 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.4 aut |
| 700 | 1 | a Wang, Charlesu Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA 92350 USA.;Loma Linda Univ, Sch Med, Dept Basic Sci, Loma Linda, CA 92350 USA.4 aut |
| 700 | 1 | a Xiao, Wenmingu US FDA, Ctr Devices & Radiol Hlth, Silver Spring, MD 20993 USA.4 aut |
| 710 | 2 | a Roche Sequencing Solut Inc, Bioinformat Res & Early Dev, Belmont, CA USA.b NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.4 org |
| 773 | 0 | t Nature Biotechnologyd : Springer Natureg 39:9, s. 1151-1160q 39:9<1151-1160x 1087-0156x 1546-1696 |
| 856 | 4 | u https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532138 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-456856 |
| 856 | 4 8 | u https://doi.org/10.1038/s41587-021-00993-6 |
Hitta mer i SwePub
- Av författaren/redakt...
- Fang, Li Tai
- Zhu, Bin
- Zhao, Yongmei
- Chen, Wanqiu
- Yang, Zhaowei
- Kerrigan, Liz
- visa fler...
- Langenbach, Kurt
- de Mars, Maryell ...
- 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, Virgi ...
- Sultan, Marc
- Cam, Margaret
- Mehta, Monika
- Hung, Tiffany
- Peters, Eric
- Kalamegham, Rasi ...
- Sahraeian, Sayed ...
- Mohiyuddin, Marg ...
- Guo, Yunfei
- Yao, Lijing
- Song, Lei
- Lam, Hugo Y. K.
- Drabek, Jiri
- Vojta, Petr
- Maestro, Roberta
- Gasparotto, Dani ...
- Koks, Sulev
- Reimann, Ene
- Scherer, Andreas
- Nordlund, Jessic ...
- Liljedahl, Ulrik ...
- Jensen, Roderick ...
- Pirooznia, Mehdi
- Li, Zhipan
- Xiao, Chunlin
- Sherry, Stephen ...
- Kusko, Rebecca
- Moos, Malcolm
- Donaldson, Eric
- Tezak, Zivana
- Ning, Baitang
- Tong, Weida
- Li, Jing
- Duerken-Hughes, ...
- Catalanotti, Cla ...
- Maheshwari, Sham ...
- Shuga, Joe
- Liang, Winnie S.
- Keats, Jonathan
- Adkins, Jonathan
- Tassone, Erica
- Zismann, Victori ...
- McDaniel, Timoth ...
- Trent, Jeffrey
- Foox, Jonathan
- Butler, Daniel
- Mason, Christoph ...
- Hong, Huixiao
- Shi, Leming
- Wang, Charles
- Xiao, Wenming
- visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
- MEDICIN OCH HÄLS ...
- och Klinisk medicin
- och Cancer och onkol ...
- Artiklar i publikationen
- Nature Biotechno ...
- Av lärosätet
- Uppsala universitet
Sök utanför SwePub
- Sök vidare i:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - Nationella bibliotekssystem
- LIBRIS.kb.se
