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

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030999/
https://www.ncbi.nlm.nih.gov/pubmed/29860504
http://dx.doi.org/10.1093/gigascience/giy064
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author 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
author_facet 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
author_sort Belyeu, Jonathan R
collection PubMed
description 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-plaudit Demonstration video available at https://www.youtube.com/watch?v=ono8kHMKxDs
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spelling pubmed-60309992018-07-10 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 Gigascience Research 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-plaudit Demonstration video available at https://www.youtube.com/watch?v=ono8kHMKxDs Oxford University Press 2018-05-31 /pmc/articles/PMC6030999/ /pubmed/29860504 http://dx.doi.org/10.1093/gigascience/giy064 Text en © The Author(s) 2018. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
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
SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title_full SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title_fullStr SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title_full_unstemmed SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title_short SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
title_sort sv-plaudit: a cloud-based framework for manually curating thousands of structural variants
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030999/
https://www.ncbi.nlm.nih.gov/pubmed/29860504
http://dx.doi.org/10.1093/gigascience/giy064
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