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.

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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

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