SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.
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.
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Base de dados:
MEDLINE
Assunto principal:
Informática Médica
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Alinhamento de Sequência
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Análise de Sequência de DNA
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Genômica
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Sequenciamento de Nucleotídeos em Larga Escala
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article