1. Mapping
2. SNV Detection
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VarScan: A platform-independent, technology-independent software tool for identifying SNVs, indels, and CNVs in massively parallel sequencing of individual and pooled samples.
3. Indel Detection
4. Structural Variation Detection
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BreakDancer: A tool for detecting five types of SVs (insertions, deletions, inversions, inter- and intra-chromosomal translocations) from next generation paired-end sequencing reads.
- CREST: A software that uses the soft-clipped reads to directly map the breakpoints of SVs.
5. Copy Number Variation Detection
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VarScan: A platform-independent, technology-independent software tool for identifying SNVs, indels, and CNVs in massively parallel sequencing of individual and pooled samples.
6. Annotation
7. Data Visualization
8. Fusion Gene Detection
参考资料:http://bioinfo.mc./NGS/software.html
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