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A tool for the detection of copy number variation (CNV) in Next Generation Sequencing (NGS) data panels. This tool includes QC criteria for samples and for a region of interest. Implemented as a standalone tool with a graphical user interface for clinical diagnostics usage and as an R package.


Genetic variation; Molecular genetics; Sequence analysis; NGS


  • Operation: Copy number estimation
  • Software interface: Command-line user interface; graphical user interface
  • Language: R
  • Operating system: Linux; Mac OS X; Microsoft Windows
  • License: GNU Lesser General Public License v>=2
  • Cost: Free
  • Version name: 1.1.0
  • Credit: -
  • Contact: povysil _at_ | katharina.wimmer _at_
  • Collection: BioConductor


Povysil G, Tzika A, Vogt J, Haunschmid V, Messiaen L, Zschocke J, Klambauer G, Hochreiter S, Wimmer K "panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics" Hum Mutat. 2017 Jul;38(7):889-897.
PMID: 28449315
PMCID: PMC5518446

Huber W, Carey VJ, Gentleman R, Anders S, Carlson M, Carvalho BS, Bravo HC, Davis S, Gatto L, Girke T, Gottardo R, Hahne F, Hansen KD, Irizarry RA, Lawrence M, Love MI, MacDonald J1, Obenchain V, Oleś AK, Pagès H, Reyes A, Shannon P, Smyth GK, Tenenbaum D, Waldron L, Morgan M "Orchestrating high-throughput genomic analysis with Bioconductor." Nat Methods. 2015 Feb;12(2):115-21.
PMID: 25633503
PMCID: PMC4509590

Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, Dudoit S, Ellis B, Gautier L, Ge Y, Gentry J, Hornik K, Hothorn T, Huber W, Iacus S, Irizarry R, Leisch F, Li C, Maechler M, Rossini AJ, Sawitzki G, Smith C, Smyth G, Tierney L, Yang JY, Zhang J. "Bioconductor: open software development for computational biology and bioinformatics." Genome Biol. 2004;5(10):R80. Epub 2004 Sep 15.
PMID: 15461798
PMCID: PMC545600

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