Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
José Marcos Moreno-CabreraJesús Del ValleLidia FeliubadalóMarta PinedaSara GonzálezOlga CamposRaquel CuestaJoan BrunetEduard SerraGabriel CapellàBernat GelConxi Lazaro GarciaPublished in: Journal of medical genetics (2020)
Including an in silico germline NGS CNV detection tool improved our genetic diagnostics strategy in hereditary cancer, both increasing the number of CNVs detected and reducing turnaround time and costs.