Accurate simulations of structural variation distributions and sequencing data are crucial for the development and benchmarking of new tools. We develop Sim-it, a straightforward tool for the simulation of both structural variation and long-read data. These simulations from Sim-it reveal the strengths and weaknesses for current available structural variation callers and long-read sequencing platforms. With these findings, we develop a new method (combiSV) that can combine the results from structural variation callers into a superior call set with increased recall and precision, which is also observed for the latest structural variation benchmark set developed by the GIAB Consortium.
CITATION STYLE
Dierckxsens, N., Li, T., Vermeesch, J. R., & Xie, Z. (2021). A benchmark of structural variation detection by long reads through a realistic simulated model. Genome Biology, 22(1). https://doi.org/10.1186/s13059-021-02551-4
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