4.7 Article

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

Journal

GIGASCIENCE
Volume 7, Issue 7, Pages -

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/gigascience/giy064

Keywords

structural variants; visualization; manual curation

Funding

  1. US National Human Genome Research Institute [NIH K99HG009532, NIH R01HG006693, NIH R01GM124355]
  2. US National Cancer Institute [NIH U24CA209999]

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SV-plaudit is a framework for rapidly curating structural variant (SV) 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 Variant Call Format (VCF) file. As a proof of principle, nine researchers collaborated for 1 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.

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