Clinical Genetics Expert
- תל אביב
- משרה קבועה
- משרה מלאה
- End-to-end ACMG classification - evaluate SNVs, indels, CNVs, and splice variants; apply ACMG/AMP (and ClinGen-specific) criteria; issue final classifications with full evidence trails.
- Evidence gathering & synthesis - mine gnomAD, TOPMed, PubMed, functional-assay papers, and family segregation data; reconcile conflicting evidence and document rationale.
- Toolset mastery - leverage VarSome, Franklin (Genoox), Ensembl VEP, Ensembl Browser, HGMD, ClinVar, and internal dashboards to cross-validate calls.
- AI feedback loop - flag edge cases, refine rule logic, and collaborate with data-science teams to improve automated scoring engines.
- Knowledge-base curation - author concise variant summaries, track re-classifications, and maintain a high-quality internal database.
- Cross-functional collaboration - partner with product, ML, and UX teams to keep outputs accurate, explainable, and clinician-friendly; contribute to user training materials.
- Clinical genetics experience - 4 + years in a diagnostic or research lab performing ACMG variant interpretation end-to-end.
- Power-user of data sources - daily comfort with VarSome, Franklin/Genoox, Ensembl VEP & Browser, gnomAD, ClinVar, HGMD, PubMed, and other population/functional databases.
- Evidence integration skills - able to weigh segregation data, de novo status, functional assays, computational scores, and literature to reach a defensible classification.
- Clear communicator - produce audit-ready reports and explain decisions to both scientists and non-experts.
- Tech fluency - experienced with bioinformatics portals or LIMS; eager to learn new SaaS tools and give rapid feedback.
- Familiarity with gene- or disease-specific ClinGen expert-panel guidelines.
- Experience curating structural variants or mitochondrial genomes.
- Comfort reading basic Python notebooks or SQL queries to validate evidence pipelines.
- Mission with impact - every classification you issue feeds directly into patient-care decisions.
- Human + AI synergy - help shape the next generation of automated interpretation tools.
- A-player crew & good vibes - collaborate with a sharp, supportive team that teaches, learns, and celebrates wins over craft beer or a killer playlist.
- Early-stage momentum - join while the rocket is still lifting off and shape how variant interpretation evolves in the AI era.
Mploy