4.6 Article

Genome Modeling System: A Knowledge Management Platform for Genomics

Journal

PLOS COMPUTATIONAL BIOLOGY
Volume 11, Issue 7, Pages -

Publisher

PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pcbi.1004274

Keywords

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Funding

  1. NHGRI Large Scale Sequencing and Analysis Center grant [U54 HG003079]
  2. NHGRI Genome Sequencing Informatics Tools (GS-IT) Program [U01 HG006517]
  3. Amazon AWS in Education Research Grant

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In this work, we present the Genome Modeling System (GMS), an analysis information management system capable of executing automated genome analysis pipelines at a massive scale. The GMS framework provides detailed tracking of samples and data coupled with reliable and repeatable analysis pipelines. The GMS also serves as a platform for bioinformatics development, allowing a large team to collaborate on data analysis, or an individual researcher to leverage the work of others effectively within its data management system. Rather than separating ad-hoc analysis from rigorous, reproducible pipelines, the GMS promotes systematic integration between the two. As a demonstration of the GMS, we performed an integrated analysis of whole genome, exome and transcriptome sequencing data from a breast cancer cell line (HCC1395) and matched lymphoblastoid line (HCC1395BL). These data are available for users to test the software, complete tutorials and develop novel GMS pipeline configurations.

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