What are the responsibilities and job description for the Clinical Variant Scientist position at Machaon Diagnostics?
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