SV-plaudit: A cloud-based framework for manually curating thousands of structural variants

Jonathan R. Belyeu, T. Nicholas, Brent S. Pedersen, Thomas A. Sasani, James M. Havrilla, Stephanie N. Kravitz, Megan E. Conway, Brian K. Lohman, Aaron R. Quinlan, Ryan M. Layer

bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 12 citations · 19 references

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Abstract

ABSTRACT SV-plaudit is a framework for rapidly curating structural variant (SVs) predictions. For each SV, we generate an image that visualizes the coverage and alignment signals from a set of samples. Images are uploaded to our cloud framework where users assess the quality of each image using a client-side web application. Reports can then be generated as a tab-delimited file or annotated VCF. As a proof of principle, nine researchers collaborated for one hour to evaluate 1,350 SVs each. We anticipate that SV-plaudit will become a standard step in variant calling pipelines and the crowd-sourced curation of other biological results. Code available at https://github.com/jbelyeu/SV-plaudit Demonstration video available at https://www.youtube.com/watch?v=ono8kHMKxDs

References

19