NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.
Michael D LindermanCrystal PaudyalMusab ShakeelWilliam KelleyAli BashirBruce D GelbPublished in: GigaScience (2022)
Growing SV databases and the increasing availability of SV calls from long-read sequencing make stand-alone genotyping of previously identified SVs an increasingly important component of genome analyses. By treating potential biases as a "black box" that can be simulated, NPSV provides a framework for accurately genotyping a broad range of SVs in both targeted and genome-scale applications.