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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Marisa P. Dolled-Filhart, Michael Lee, Chih-wen Ou-yang, Rajini Rani Haraksingh, Jimmy Cheng-Ho Lin
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1155/2013/730210
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1537-744X