Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data
Brendan D. O’Fallon, Jacob Durtschi, Anatasia Kellogg, Tracey B. Lewis, Devin W. Close, Hunter D. Best
This paper improves CNV detection in NGS data using algorithmic adaptations in an HMM framework, achieving better PPV with similar sensitivity compared to existing tools.
BMC Bioinformatics · Jul 19, 2022Peer-reviewedBioinformatics