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

被引:27
作者
Belyeu, Jonathan R. [1 ,2 ]
Nicholas, Thomas J. [1 ,2 ]
Pedersen, Brent S. [1 ,2 ]
Sasani, Thomas A. [1 ,2 ]
Havrilla, James M. [1 ,2 ]
Kravitz, Stephanie N. [1 ,2 ]
Conway, Megan E. [1 ]
Lohman, Brian K. [1 ,2 ]
Quinlan, Aaron R. [1 ,2 ,3 ]
Layer, Ryan M. [1 ,2 ]
机构
[1] Univ Utah, Dept Human Genet, 15 S 2030 E, Salt Lake City, UT 84112 USA
[2] Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT USA
[3] Univ Utah, Dept Biomed Informat, Salt Lake City, UT USA
关键词
structural variants; visualization; manual curation; PAIRED-END; COPY NUMBER; VISUALIZATION; INSERTIONS; DISCOVERY; VIEWER;
D O I
10.1093/gigascience/giy064
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页数:7
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