Clinical Variant Scientist

Clinical Variant Scientist (Part‑Time, Remote)

Location:

Remote

Employment Type:

Part‑Time (10 hrs/week)

Machaon Diagnostics is a specialized clinical reference laboratory and CRO focused on hematology, immunology and rare disease diagnostics. We support physicians, hospitals, and pharma/biotech partners by delivering fast, high‑quality molecular and functional testing. Our genetics program includes next‑generation sequencing assays, somatic and germline variant interpretation, and the development of innovative assays in complement biology, immune dysregulation, and related pathways.

Machaon Diagnostics is seeking a part‑time, remote Clinical Variant Scientist to support our growing genetics program focused on rare disease, immunology, hematology, and complement biology. You’ll play a key role in variant interpretation, report drafting, and assay‑development support.

This role offers flexible hours, remote work, and meaningful impact in clinical diagnostics.

• Review NGS data, QC metrics, and annotation outputs
• Curate variants using Clin Var, gnom
  
  AD, HGMD, and related databases
• Draft clear, concise clinical reports
• Maintain and update internal variant knowledge bases
• Support new assay development and validation
• Ensure compliance with CLIA/CAP standards and SOPs

• MSc or PhD in Genetics, Genomics, Molecular Biology, or related field
• 1–3+ years experience in clinical variant interpretation

• Experience with rare disease, immune dysregulation, or complement biology
• Prior work in a CLIA/CAP-accredited lab

• Part‑time remote role (approx. 10 hrs/week)
• Opportunity to contribute to innovative rare‑disease diagnostics
• Supportive and collaborative team environment

Submit your CV and a brief note about your variant‑interpretation experience to:

Subject:
Clinical Variant Scientist – Part‑Time