seq.hotSPOT
seq.hotSPOT designs custom targeted sequencing panels to improve mutation capture efficacy for ultradeep sequencing projects by identifying genomic regions likely to contain the most mutations.
Key Features:
- Custom panel design: Generates tissue-specific targeted sequencing panels using SNV datasets.
- Hotspot identification: Identifies genomic regions with the highest probability of containing mutations.
- Cost-efficient deep sequencing: Enables high-depth mutation burden studies without whole-exome or whole-genome sequencing costs.
- Low-frequency mutation detection: Supports detection of low-frequency clonal mutations in clinically normal and cancerous tissues.
Scientific Applications:
- Mutation burden analysis: Facilitates high-depth study of mutation burden in specific tissues.
- Clonal mutation research: Enables investigation of low-frequency clonal mutations in both normal and cancerous tissues.
- Ultradeep sequencing projects: Improves mutation capture efficacy for projects requiring exceptional sequencing depth.
Methodology:
seq.hotSPOT uses SNV datasets to design custom panels and identify mutation-rich genomic regions.
Collections
Details
- License:
- Artistic-2.0
- Tool Type:
- command-line tool, library
- Operating Systems:
- Linux, Mac, Windows
- Programming Languages:
- R
- Added:
- 8/30/2026
- Last Updated:
- 8/30/2026
Operations
Publications
Documentation
Downloads
- Source codehttps://github.com/sydney-grant/seq.hotSPOT