Job Details

Clinical Variant Scientist

Title: Clinical Variant Scientist (Part-Time, Remote)

Company: Machaon Diagnostics

Location: Remote

Employment Type: Part-Time (10 hrs/week)

About Us

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.

About the Role

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.

What You'll Do

• Interpret germline and/or somatic variants using ACMG/AMP guidelines
• Review NGS data, QC metrics, and annotation outputs
• Curate variants using ClinVar, gnomAD, 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

What We're Looking For

Required:

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

Preferred:

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

What We Offer

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

How to Apply

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

james.kain at machaondiagnostics.com

Subject: Clinical Variant Scientist – Part-Time