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BioinformaticsGigaScience
Peer-reviewed journal article

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

Jonathan R. BelyeuiD, Thomas J Nicholas, Brent S. PederseniD, Thomas A. SasaniiD, James M. HavrillaiD, Stephanie N. KravitziD, Megan E. ConwayiD, Brian K. LohmaniD, Aaron R. QuinlaniD, Ryan M. LayeriD

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.\n\nCode available at https://github.com/jbelyeu/SV-plaudit\n\nDemonstration video available at https://www.youtube.com/watch?v=ono8kHMKxDs

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02 /Specification & Classification

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