GenomeVariator

Tool for adding genomic variants to an existing genome (in SAM/BAM/CRAM format)

Institution:

Institution

Research Group:

BSC Group: Life Sciences

Researcher/s:

Rodrigo Martín Posada

Description:

GenomeVariator builds “tumourised” synthetic genomes by spiking SNVs, indels and complex SVs into real read sets (SAM/BAM/CRAM). This lets biobanks manufacture large, privacy-safe benchmark data and stress-test variant-calling workflows at petabyte scale that are the dataset need highlighted by HPC trends.

GenomeVariator is a synthetic-genome generator that fills a critical QA gap for exascale genomics. With cluster scaling, privacy audits and regulatory packaging, it can become the go-to benchmark factory international infrastructure projects and bioinformatic tool developers.

Value Proposition:

Generate a 100 k-tumour synthetic cohort with GDPR compliance

Aplication areas:

Infrastructure testing, variant calling tools development

Target market:

Pharmaceutical; IVD Diagnostics

Protection:

MIT License

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