Shiny-SoSV: A web-based performance calculator for somatic structural variant detection

PLoS One. 2020 Aug 27;15(8):e0238108. doi: 10.1371/journal.pone.0238108. eCollection 2020.

Abstract

Somatic structural variants are an important contributor to cancer development and evolution. Accurate detection of these complex variants from whole genome sequencing data is influenced by a multitude of parameters. However, there are currently no tools for guiding study design nor are there applications that could predict the performance of somatic structural variant detection. To address this gap, we developed Shiny-SoSV, a user-friendly web-based calculator for determining the impact of common variables on the sensitivity, precision and F1 score of somatic structural variant detection, including choice of variant detection tool, sequencing depth of coverage, variant allele fraction, and variant breakpoint resolution. Using simulation studies, we determined singular and combinatoric effects of these variables, modelled the results using a generalised additive model, allowing structural variant detection performance to be predicted for any combination of predictors. Shiny-SoSV provides an interactive and visual platform for users to easily compare individual and combined impact of different parameters. It predicts the performance of a proposed study design, on somatic structural variant detection, prior to the commencement of benchwork. Shiny-SoSV is freely available at https://hcpcg.shinyapps.io/Shiny-SoSV with accompanying user's guide and example use-cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Carcinogenesis / genetics
  • Computational Biology / methods*
  • Genetic Variation / genetics*
  • Genome / genetics
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Internet
  • Neoplasms / genetics
  • Software

Grants and funding

This work was financially supported by an Australian Government Research Training Program Scholarship awarded to T.G., by a Movember Revolutionary Team Award (PRoMis) from Movember Australia and the Prostate Cancer Foundation Australia, by the University of Sydney Foundation and Petre Foundation funding received by V.M.H. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.