Genomics | Bioinformatics
Mercury: next generation sequencing data analysis and annotation pipeline
David P Sexton*, Mike Dahdouli, Matthew Bainbridge, Danny Challis, Fuli Yu, Eric Boerwinkle, Jeffrey G Reid, Richard Gibbs
*Corresponding author: David P Sexton
Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
F1000Posters 2012, 3: 932 (poster) [English]
Poster [1.27 MB]
Presented at
International Conference on Intelligent Systems for Molecular Biology (ISMB) 2012,
14 - 16 Jul 2012, A35
The use of whole exome capture and whole genome sequencing employing next generation sequencing (NGS) technology has created immense quantities of data, which must be analyzed and annotated for biological significance. Increasingly, these techniques are being used in the clinical setting in order to diagnose and manage disease cases with a significant genetic component. The resulting terabyte-scale data generated from NGS precludes a labor-intensive approach to data analysis and annotation. For these reasons, we have developed Mercury, a semi-automated pipeline for clinical NGS data analysis and annotation.
An analysis pipeline supporting clinical sequencing is both necessary and feasible for NGS.
No relevant competing interests disclosed.
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