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The Scientific World Journal
Volume 2013 (2013), Article ID 730210, 10 pages
Review Article

Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing

Rare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USA

Received 28 October 2012; Accepted 22 November 2012

Academic Editors: R. Jiang, W. Tian, J. Wan, and X. Zhao

Copyright © 2013 Marisa P. Dolled-Filhart et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


It has become increasingly apparent that one of the major hurdles in the genomic age will be the bioinformatics challenges of next-generation sequencing. We provide an overview of a general framework of bioinformatics analysis. For each of the three stages of (1) alignment, (2) variant calling, and (3) filtering and annotation, we describe the analysis required and survey the different software packages that are used. Furthermore, we discuss possible future developments as data sources grow and highlight opportunities for new bioinformatics tools to be developed.