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Consensus Approach for Detection of Cancer Somatic Mutations
Silesian Tech Univ, Inst Automat Control, Gliwice, Poland.
Silesian Tech Univ, Inst Automat Control, Gliwice, Poland.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Cell and Molecular Biology, Computational Biology and Bioinformatics.
Silesian Tech Univ, Inst Informat, Gliwice, Poland.
2018 (English)In: Man-Machine Interactions 5, ICMM 2017 / [ed] Gruca, A Czachorski, T Harezlak, K Kozielski, S Piotrowska, A, 2018, p. 163-171Conference paper, Published paper (Refereed)
Abstract [en]

We present a consensus algorithm for detection of somatic mutations in cancer genomics data, based on integrating results of four published somatic mutation callers, MuTect2, MuSE, Varscan2 and Somatic Sniper. We generate consensus lists of cancer somatic mutations by using a simple voting mechanisms. Performances of cancer somatic mutations searching algorithms are verified by a quality index defined by the estimated proportion between driver and passenger mutations. We demonstrate, on the basis of three large NGS datasets from the TCGA database, that our consensus algorithm improves detection of cancer somatic mutations.

Place, publisher, year, edition, pages
2018. p. 163-171
Series
Advances in Intelligent Systems and Computing, ISSN 2194-5357, E-ISSN 2194-5365 ; 659
Keywords [en]
Cancer genomics, Somatic mutations, Consensus methods
National Category
Public Health, Global Health, Social Medicine and Epidemiology Cell and Molecular Biology Bioinformatics (Computational Biology) Human Computer Interaction
Identifiers
URN: urn:nbn:se:uu:diva-385786DOI: 10.1007/978-3-319-67792-7_17ISI: 000468066000017ISBN: 978-3-319-67792-7 (electronic)ISBN: 978-3-319-67791-0 (print)OAI: oai:DiVA.org:uu-385786DiVA, id: diva2:1325762
Conference
5th International Conference on Man-Machine Interactions (ICMMI), OCT 03-06, 2017, Krakow, POLAND
Available from: 2019-06-17 Created: 2019-06-17 Last updated: 2019-06-17Bibliographically approved

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Garbulowski, Mateusz

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