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

Overview of attention for article published in PLOS ONE, January 2014
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Title
STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
Published in
PLOS ONE, January 2014
DOI 10.1371/journal.pone.0084860
Pubmed ID
Authors

Konrad J. Karczewski, Guy Haskin Fernald, Alicia R. Martin, Michael Snyder, Nicholas P. Tatonetti, Joel T. Dudley

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.

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Mendeley readers

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Geographical breakdown

Country Count As %
United States 4 6%
United Kingdom 2 3%
Argentina 1 1%
Sweden 1 1%
Spain 1 1%
Belgium 1 1%
Japan 1 1%
Poland 1 1%
Unknown 57 83%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 29%
Student > Ph. D. Student 19 28%
Student > Master 6 9%
Student > Bachelor 3 4%
Other 3 4%
Other 10 14%
Unknown 8 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 35%
Computer Science 13 19%
Biochemistry, Genetics and Molecular Biology 7 10%
Medicine and Dentistry 6 9%
Engineering 2 3%
Other 6 9%
Unknown 11 16%