bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 12 citations · 19 references
Life SciencesBioinformaticsCloud ComputingComputational BiologyGenomicsStructural BioinformaticsData PipelinesStructural Variant AnalysisVariant AnalysisVariant CallingVariant DetectionAutomated Curation PipelinesBioinformatic Analysis PipelinesBioinformatic PipelinesBioinformatic Variant CallingSequence Curation WorkflowsStructural Variant CallingVariant BenchmarkingVariant Call Quality Assessment
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
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Matplotlib: A 2D Graphics Environment
John D. Hunter · Computing in Science & Engineering · 2007 · 39.6K citations
Global variation in copy number in the human genome
Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text
DELLY: structural variant discovery by integrated paired-end and split-read analysis
Tobias Rausch, Thomas Zichner, Andreas Schlattl et al. · Bioinformatics · 2012 · 2.7K citations · Full text
An integrated map of structural variation in 2,504 human genomes
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