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SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.
Belyeu, Jonathan R; Nicholas, Thomas J; Pedersen, Brent S; Sasani, Thomas A; Havrilla, James M; Kravitz, Stephanie N; Conway, Megan E; Lohman, Brian K; Quinlan, Aaron R; Layer, Ryan M.
Afiliação
  • Belyeu JR; Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA.
  • Nicholas TJ; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Pedersen BS; Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA.
  • Sasani TA; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Havrilla JM; Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA.
  • Kravitz SN; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Conway ME; Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA.
  • Lohman BK; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Quinlan AR; Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA.
  • Layer RM; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Gigascience ; 7(7)2018 07 01.
Article em En | MEDLINE | ID: mdl-29860504
ABSTRACT
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.Code available at https//github.com/jbelyeu/SV-plauditDemonstration video available at https//www.youtube.com/watch?v=ono8kHMKxDs.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Informática Médica / Alinhamento de Sequência / Análise de Sequência de DNA / Genômica / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Informática Médica / Alinhamento de Sequência / Análise de Sequência de DNA / Genômica / Sequenciamento de Nucleotídeos em Larga Escala Idioma: En Ano de publicação: 2018 Tipo de documento: Article