GENOMICON-Seq

GENOMICON-Seq simulates mutations in amplicon and whole exome sequencing to enable assessment of laboratory and bioinformatics parameters influencing mutation detection.

Key Features:

• Genome mutation generation: Generates genomes with mutations mimicking low-frequency mutations, APOBEC3 activity in viruses, somatic mutations, and single base substitution (SBS) mutational signals.
• Sequencing bias and error simulation: Adds amplicon and whole exome sequencing biases and errors to simulated data.
• Sequencing read output: Outputs sequencing reads compatible with mutation detection tools.
• Mutation report generation: Produces a report on mutation origin (generated mutations and PCR errors), nucleotide context, and position.

Scientific Applications:

• Bioinformatics tool evaluation: Aids in the evaluation of bioinformatics tools for mutation detection.
• Experimental design optimization: Supports assessment and optimization of experimental designs without costly real-world sequencing experiments.

Methodology:

Generates genomes with mutations, mimics biological mutation processes, adds sequencing biases and errors, and outputs sequencing reads compatible with mutation detection tools.