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

被引：23

作者：

Dolled-Filhart, Marisa P. ^{[1
]}

Lee, Michael, Jr. ^{[1
]}

Ou-yang, Chih-wen ^{[1
]}

Haraksingh, Rajini Rani ^{[1
]}

Lin, Jimmy Cheng-Ho ^{[1
]}

机构：

[1] Rare Genom Inst, St Louis, MO 63110 USA

来源：

SCIENTIFIC WORLD JOURNAL | 2013年

关键词：

READ ALIGNMENT; COPY NUMBER; VARIANTS; TOOL; POLYMORPHISMS; INSERTIONS; ULTRAFAST; DISCOVERY; DELETIONS; FORMAT;

D O I：

10.1155/2013/730210

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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 so. ware packages that are used. Furthermore, we discuss possible future developments as data sources grow and highlight opportunities for new bioinformatics tools to be developed.

引用

页数：10

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