Variant Scientist

About the role

The Variant Scientist will lead clinical interpretation of genetic variants from next‑generation sequencing (NGS) tests, supporting precision medicine across the National Reference Laboratory network. Working closely with geneticists, bioinformaticians and clinicians, you will translate genomic data into actionable insights for patient care.

Key responsibilities

• Perform end‑to‑end clinical variant interpretation for somatic and/or germline NGS assays.
• Curate and classify variants using ACMG/AMP, AMP/ASCO/CAP frameworks and tumor‑type specific evidence.
• Draft clear, clinically actionable molecular report narratives.
• Maintain an internal knowledgebase of variant assertions, literature updates and version control.
• Support assay validation, pipeline updates and post‑launch performance monitoring.
• Participate in quality management activities, including CAP/ISO documentation, audits and EQA/PT responses.

Required profile

• MSc/PhD or equivalent in Molecular Genetics, Genomics, Bioinformatics or related field.
• Demonstrated experience in clinical NGS variant curation and interpretation, preferably in somatic oncology.
• Strong knowledge of variant classification standards and evidence sources (ClinVar, gnomAD, COSMIC, literature).
• Excellent written communication skills for high‑quality clinical reports.
• Attention to detail and ability to meet time‑sensitive clinical turnaround times.

Required skills

• Next‑generation sequencing (NGS) data review (VAF, depth, artifacts).
• Variant curation using ACMG/AMP guidelines.
• Familiarity with databases: ClinVar, gnomAD, COSMIC.
• Molecular report writing.
• CAP/ISO quality management processes.