panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
作者信息
Povysil Gundula, Tzika Antigoni, Vogt Julia, Haunschmid Verena, Messiaen Ludwine, Zschocke Johannes, Klambauer Günter, Hochreiter Sepp, Wimmer Katharina
机构信息
Institute of Bioinformatics, Johannes Kepler University Linz, Linz, Austria.
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
出版信息
Hum Mutat. 2017 Jul;38(7):889-897. doi: 10.1002/humu.23237. Epub 2017 May 16.
Targeted next-generation-sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy-number variations (CNVs) in addition to single-nucleotide variants and small insertions/deletions. However, existing computational CNV detection methods have shortcomings regarding accuracy, quality control (QC), incidental findings, and user-friendliness. We developed panelcn.MOPS, a novel pipeline for detecting CNVs in targeted NGS panel data. Using data from 180 samples, we compared panelcn.MOPS with five state-of-the-art methods. With panelcn.MOPS leading the field, most methods achieved comparably high accuracy. panelcn.MOPS reliably detected CNVs ranging in size from part of a region of interest (ROI), to whole genes, which may comprise all ROIs investigated in a given sample. The latter is enabled by analyzing reads from all ROIs of the panel, but presenting results exclusively for user-selected genes, thus avoiding incidental findings. Additionally, panelcn.MOPS offers QC criteria not only for samples, but also for individual ROIs within a sample, which increases the confidence in called CNVs. panelcn.MOPS is freely available both as R package and standalone software with graphical user interface that is easy to use for clinical geneticists without any programming experience. panelcn.MOPS combines high sensitivity and specificity with user-friendliness rendering it highly suitable for routine clinical diagnostics.