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

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...

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Main Authors: Marisa P. Dolled-Filhart, Michael Lee, Chih-wen Ou-yang, Rajini Rani Haraksingh, Jimmy Cheng-Ho Lin
Format: Article
Language:English
Published: Hindawi Limited 2013-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1155/2013/730210
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spelling doaj-c5c639c7219344799093f79a753c49ff2020-11-24T21:28:56ZengHindawi LimitedThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/730210730210Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome SequencingMarisa P. Dolled-Filhart0Michael Lee1Chih-wen Ou-yang2Rajini Rani Haraksingh3Jimmy Cheng-Ho Lin4Rare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USARare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USARare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USARare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USARare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St. Louis, MO 63108, USAIt 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.http://dx.doi.org/10.1155/2013/730210
collection DOAJ
language English
format Article
sources DOAJ
author Marisa P. Dolled-Filhart
Michael Lee
Chih-wen Ou-yang
Rajini Rani Haraksingh
Jimmy Cheng-Ho Lin
spellingShingle Marisa P. Dolled-Filhart
Michael Lee
Chih-wen Ou-yang
Rajini Rani Haraksingh
Jimmy Cheng-Ho Lin
Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
The Scientific World Journal
author_facet Marisa P. Dolled-Filhart
Michael Lee
Chih-wen Ou-yang
Rajini Rani Haraksingh
Jimmy Cheng-Ho Lin
author_sort Marisa P. Dolled-Filhart
title Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
title_short Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
title_full Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
title_fullStr Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
title_full_unstemmed Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
title_sort computational and bioinformatics frameworks for next-generation whole exome and genome sequencing
publisher Hindawi Limited
series The Scientific World Journal
issn 1537-744X
publishDate 2013-01-01
description 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.
url http://dx.doi.org/10.1155/2013/730210
work_keys_str_mv AT marisapdolledfilhart computationalandbioinformaticsframeworksfornextgenerationwholeexomeandgenomesequencing
AT michaellee computationalandbioinformaticsframeworksfornextgenerationwholeexomeandgenomesequencing
AT chihwenouyang computationalandbioinformaticsframeworksfornextgenerationwholeexomeandgenomesequencing
AT rajiniraniharaksingh computationalandbioinformaticsframeworksfornextgenerationwholeexomeandgenomesequencing
AT jimmychengholin computationalandbioinformaticsframeworksfornextgenerationwholeexomeandgenomesequencing
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