CNVs and structural variants - Structural variation detection
4 important questions on CNVs and structural variants - Structural variation detection
Many forms of strucural variation
- Deletion
- Novel sequence insertion
- Mobile-element insertion
- Tandem duplication
- Interspersed duplication
- Inversion
- Translocation
Strategies for detecting strucural variation
- Read depth
- Split read mapping
- Discordant pairs
- De novo assembly
For an insert size that is smaller than expected, this may be evidence of?
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Translocations almost never happen in germline, but a lot in?
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