SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-459899"
 

Search: onr:"swepub:oai:DiVA.org:uu-459899" > Whole genome and ex...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Zhao, Yongmei (author)
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA.
Fang, Li Tai (author)
Roche Sequencing Solut Inc, Bioinformat Res Early Dev, Belmont, CA USA.
Shen, Tsai-wei (author)
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA.
show more...
Choudhari, Sulbha (author)
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA.
Talsania, Keyur (author)
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA.
Chen, Xiongfong (author)
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA.
Shetty, Jyoti (author)
Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.
Kriga, Yuliya (author)
Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.
Tran, Bao (author)
Frederick Natl Lab Canc Res, Canc Res Technol Program, Sequencing Facil, Frederick, MD USA.
Zhu, Bin (author)
Natl Canc Inst, Natl Inst Hlth, Div Canc Epidemiol & Genet, Bethesda, MD USA.
Chen, Zhong (author)
Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA USA.
Chen, Wanqiu (author)
Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA USA.
Wang, Charles (author)
Loma Linda Univ, Sch Med, Ctr Genom, Loma Linda, CA USA.;AbbVie Genom Res Ctr, N Chicago, IL USA.
Jaeger, Erich (author)
Illumina Inc, Core Applicat Grp, Product Dev, Foster City, CA USA.;AbbVie Genom Res Ctr, N Chicago, IL USA.
Meerzaman, Daoud (author)
Natl Canc Inst, Natl Inst Hlth, Computat Genom & Bioinformat Branch, Ctr Biomed Informat & Informat Technol, Bethesda, MD USA.
Lu, Charles (author)
Idler, Kenneth (author)
Ren, Luyao (author)
Fudan Univ, Sch Life Sci & Shanghai Canc Ctr, 9State Key Lab Genet Engn, Shanghai, Peoples R China.
Zheng, Yuanting (author)
Fudan Univ, Sch Life Sci & Shanghai Canc Ctr, 9State Key Lab Genet Engn, Shanghai, Peoples R China.
Shi, Leming (author)
Fudan Univ, Sch Life Sci & Shanghai Canc Ctr, 9State Key Lab Genet Engn, Shanghai, Peoples R China.
Petitjean, Virginie (author)
Biomarker Dev Novartis Inst Biomed Res, Basel, Switzerland.
Sultan, Marc (author)
Biomarker Dev Novartis Inst Biomed Res, Basel, Switzerland.
Hung, Tiffany (author)
Genentech Inc, Compan Diagnost Dev, Oncol Biomarker Dev, San Francisco, CA USA.
Peters, Eric (author)
Genentech Inc, Compan Diagnost Dev, Oncol Biomarker Dev, San Francisco, CA USA.
Drabek, Jiri (author)
Palacky Univ, Fac Med & Dent, IMTM, Olomouc, Czech Republic.;EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.
Vojta, Petr (author)
Palacky Univ, Fac Med & Dent, IMTM, Olomouc, Czech Republic.;EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.
Maestro, Roberta (author)
EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.;Natl Canc Inst, Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Oncogenet & Funct Oncogen, Aviano, Italy.
Gasparotto, Daniela (author)
EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.;Natl Canc Inst, Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Oncogenet & Funct Oncogen, Aviano, Italy.
Koks, Sulev (author)
EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.;Perron Inst Neurol & Translat Sci, Nedlands, WA, Australia.;Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Murdoch, WA, Australia.
Reimann, Ene (author)
EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.;Univ Tartu, Inst Genom, Estonian Genome Ctr, Tartu, Estonia.
Scherer, Andreas (author)
EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.;Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.
Nordlund, Jessica (author)
Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands
Liljedahl, Ulrika (author)
Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,EATRIS ERIC European Infrastruct Translat Med, Amsterdam, Netherlands.
Foox, Jonathan (author)
Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.
Mason, Christopher E. (author)
Weill Cornell Med, Dept Physiol & Biophys, New York, NY USA.
Xiao, Chunlin (author)
Natl Inst Hlth, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD USA.
Hong, Huixiao (author)
US FDA, Natl Ctr Toxicol Res, FDA, Jefferson, AR USA.
Xiao, Wenming (author)
US FDA, Ctr Drug Evaluat & Res, FDA, Silver Spring, MD 20993 USA.
show less...
Frederick Natl Lab Canc Res, Adv Biomed & Computat Sci Biomed Informat & Data, Frederick, MD 02139 USA Roche Sequencing Solut Inc, Bioinformat Res Early Dev, Belmont, CA USA. (creator_code:org_t)
2021-11-09
2021
English.
In: Scientific Data. - : Springer Nature. - 2052-4463. ; 8:1
Related links:
https://doi.org/10.1...
show more...
https://uu.diva-port... (primary) (Raw object)
https://www.nature.c...
https://urn.kb.se/re...
https://doi.org/10.1...
show less...
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

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.

 
pil uppåt Close

Copy and save the link in order to return to this view