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: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1155/2013/730210 |
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| _version_ | 1832558826161700864 |
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| author | Marisa P. Dolled-Filhart Michael Lee Chih-wen Ou-yang Rajini Rani Haraksingh Jimmy Cheng-Ho Lin |
| 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 |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-c5c639c7219344799093f79a753c49ff |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-c5c639c7219344799093f79a753c49ff2025-02-03T01:31:30ZengWileyThe 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 |
| 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 |
| title | 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_short | 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 |
| url | http://dx.doi.org/10.1155/2013/730210 |
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