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Updated: May 14, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Computational and bioinformatics frameworks for next-generation whole exome and genome sequencing
Marisa P Dolled-Filhart1, Michael Lee, Chih-wen Ou-Yang
1Rare Genomics Institute, 4100 Forest Park Avenue, St. Louis, MO 63108, USA.
Thescientificworldjournal
|February 1, 2013
Summary
Bioinformatics analysis of next-generation sequencing data presents significant challenges. This overview details alignment, variant calling, and filtering/annotation methods, highlighting software and future tool development needs.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- Next-generation sequencing (NGS) generates vast amounts of data, creating significant bioinformatics challenges.
- Effective analysis of genomic data is crucial for advancing biological and medical research.
Purpose of the Study:
- To provide a comprehensive overview of bioinformatics analysis for next-generation sequencing data.
- To survey current software tools for key stages of genomic data analysis.
- To identify future directions and opportunities for bioinformatics tool development.
Main Methods:
- The study outlines a general framework for bioinformatics analysis.
- It details the analysis required for three critical stages: alignment, variant calling, and filtering/annotation.
- Various software packages used in these stages are reviewed.
Main Results:
- The framework covers essential steps in processing next-generation sequencing data.
- A review of existing software provides insights into current analytical capabilities.
- The study identifies areas where new bioinformatics tools are needed.
Conclusions:
- Addressing bioinformatics challenges is key to leveraging the potential of the genomic age.
- The described framework and software survey offer guidance for researchers.
- Future developments in data sources necessitate the creation of novel bioinformatics tools.
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