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STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud

The increasing public availability of personal complete genome sequencing data has ushered in an era of democratized genomics. However, read mapping and variant calling software is constantly improving and individuals with personal genomic data may prefer to customize and update their variant calls....

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Detalles Bibliográficos
Autores principales: Karczewski, Konrad J., Fernald, Guy Haskin, Martin, Alicia R., Snyder, Michael, Tatonetti, Nicholas P., Dudley, Joel T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893165/
https://www.ncbi.nlm.nih.gov/pubmed/24454756
http://dx.doi.org/10.1371/journal.pone.0084860
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author Karczewski, Konrad J.
Fernald, Guy Haskin
Martin, Alicia R.
Snyder, Michael
Tatonetti, Nicholas P.
Dudley, Joel T.
author_facet Karczewski, Konrad J.
Fernald, Guy Haskin
Martin, Alicia R.
Snyder, Michael
Tatonetti, Nicholas P.
Dudley, Joel T.
author_sort Karczewski, Konrad J.
collection PubMed
description The increasing public availability of personal complete genome sequencing data has ushered in an era of democratized genomics. However, read mapping and variant calling software is constantly improving and individuals with personal genomic data may prefer to customize and update their variant calls. Here, we describe STORMSeq (Scalable Tools for Open-Source Read Mapping), a graphical interface cloud computing solution that does not require a parallel computing environment or extensive technical experience. This customizable and modular system performs read mapping, read cleaning, and variant calling and annotation. At present, STORMSeq costs approximately $2 and 5–10 hours to process a full exome sequence and $30 and 3–8 days to process a whole genome sequence. We provide this open-access and open-source resource as a user-friendly interface in Amazon EC2.
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spelling pubmed-38931652014-01-21 STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud Karczewski, Konrad J. Fernald, Guy Haskin Martin, Alicia R. Snyder, Michael Tatonetti, Nicholas P. Dudley, Joel T. PLoS One Research Article The increasing public availability of personal complete genome sequencing data has ushered in an era of democratized genomics. However, read mapping and variant calling software is constantly improving and individuals with personal genomic data may prefer to customize and update their variant calls. Here, we describe STORMSeq (Scalable Tools for Open-Source Read Mapping), a graphical interface cloud computing solution that does not require a parallel computing environment or extensive technical experience. This customizable and modular system performs read mapping, read cleaning, and variant calling and annotation. At present, STORMSeq costs approximately $2 and 5–10 hours to process a full exome sequence and $30 and 3–8 days to process a whole genome sequence. We provide this open-access and open-source resource as a user-friendly interface in Amazon EC2. Public Library of Science 2014-01-15 /pmc/articles/PMC3893165/ /pubmed/24454756 http://dx.doi.org/10.1371/journal.pone.0084860 Text en © 2014 Karczewski et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Karczewski, Konrad J.
Fernald, Guy Haskin
Martin, Alicia R.
Snyder, Michael
Tatonetti, Nicholas P.
Dudley, Joel T.
STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title_full STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title_fullStr STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title_full_unstemmed STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title_short STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
title_sort stormseq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893165/
https://www.ncbi.nlm.nih.gov/pubmed/24454756
http://dx.doi.org/10.1371/journal.pone.0084860
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