Author(s): DolledFilhart MP, Lee M Jr, OuYang CW, Haraksingh RR, Lin JC
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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.
This article was published in ScientificWorldJournal
and referenced in Clinical & Medical Biochemistry