Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing. (13th January 2013)

• Record Type: Journal Article
• Authors: Dolled-Filhart, Marisa P.; Lee, Michael; Ou-yang, Chih-wen; Haraksingh, Rajini Rani; Lin, Jimmy Cheng-Ho
• Other Names: Jiang R. Academic Editor.; Tian W. Academic Editor.; Wan J. Academic Editor.; Zhao X. Academic Editor.
• Is Part Of: TheScientificWorldjournal. Volume 2013(2013)
• Publication Date: 2013-01-13
• Subjects: Science -- Periodicals; Technology -- Periodicals; Medicine -- Periodicals; 505
• DOI: 10.1155/2013/730210
• Languages: English
• ISSNs: 2356-6140

Abstract

Abstract : 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.