Clinical Genomics Services
On-demand bioinformatics expertise delivering genetics-based insights that accelerate research, translational, and diagnostic decision-making.
A senior bioinformatics bench you can plug into — for end-to-end interpretation or focused, specialized analysis.
Clinically meaningful, evidence-based interpretation of germline and somatic variants across research, translational, and diagnostic contexts.
Complete analysis of complex genetic and molecular datasets from all major platforms
Expert interpretation and classification of variants in accordance with ACMG/AMP guidelines
Evaluation of pathogenicity, allele frequency, and expression patterns
End-to-end project support built around scientific rigor — from study design and variant classification through to submission-ready outputs.
Quality-driven, regulatory-compliant scientific and clinical reporting focused on accuracy and consistency
LIMS and workflow integration
FDA / IVD / CE-IVD software compliance
Independent or team-led SOP and protocol development
Qualified capacity available from day one, without a six-month hiring cycle.
Senior-level output at a fraction of what a contract research organization charges.
Structured as opex — your finance team sees a services contract, not a hire.
Germline & Somatic Analysis
Individual gene-level pathogenicity analysis and disease association determination across the full clinical exome. Results contributed to a peer-reviewed publication on comprehensive gene-disease relationships.
Patient-Level Variant Classification
Classification of germline variants — missense, nonsense, frameshift, splicing, and mitochondrial — using curated databases, literature review, and bioinformatics tools, with detailed clinical reports per patient.
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