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STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud.

Authors :
Konrad J Karczewski
Guy Haskin Fernald
Alicia R Martin
Michael Snyder
Nicholas P Tatonetti
Joel T Dudley
Source :
PLoS ONE, Vol 9, Iss 1, p e84860 (2014)
Publication Year :
2014
Publisher :
Public Library of Science (PLoS), 2014.

Abstract

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.

Subjects

Subjects :
Medicine
Science

Details

Language :
English
ISSN :
19326203
Volume :
9
Issue :
1
Database :
Directory of Open Access Journals
Journal :
PLoS ONE
Publication Type :
Academic Journal
Accession number :
edsdoj.7e27acc060974172a89fb7d0876933dd
Document Type :
article
Full Text :
https://doi.org/10.1371/journal.pone.0084860