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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....
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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. |
format | Online Article Text |
id | pubmed-3893165 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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