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A high-throughput analysis pipeline for large next generation DNA sequencing studies

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5 Author(s)
Albertyn, Z. ; Disease & Translational Inf., Hoffmann-La Roche, Inc., Nutley, NJ, USA ; Hakenberg, J. ; Bian, H. ; Huifeng Niu
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Next-generation sequencing technologies offer extraordinary high-throughput capacity and broad applications in biological research, drug development and molecular diagnostics. The use of targeted exome capture provides an efficient strategy sequence the complete coding regions (the exome) of the genome at much deeper read-depths without the high costs of the whole genome sequencing approaches. With the increasingly wide acceptance of high-throughput sequencing technologies in the bio-pharmaceutical industry, it becomes critical to have fast, robust, and high quality in silico methods for secondary and tertiary analyses of large amounts of exome sequencing data in an industrial environment.

Published in:

Bioinformatics and Biomedicine (BIBM), 2012 IEEE International Conference on

Date of Conference:

4-7 Oct. 2012