Job DescriptionThe Variant Curator supports genomic analysis for patients with complex, unsolved medical conditions. The Variant Curator will be responsible for curation, interpretation, and prioritization of variants identified through whole exome sequencing (WES) and whole genome sequencing (WGS), contributing to multidisciplinary diagnostic efforts. This position requires close collaboration with the Mount Sinai Center for Undiagnosed Diseases clinical team and presentation of prioritized findings at monthly internal case review meetings. The Variant Curator is expected to analyze approximately 50 cases per year.
Responsibilities- Curate and interpret variants from WES/WGS data for approximately 50 cases per year using established guidelines and evidence-based resources
- Apply ACMG/AMP guidelines for variant classification and leverage population, clinical, and functional data to assess variant pathogenicity
- Document variant evidence and classification rationale clearly and reproducibly
- Present prioritized variants and supporting evidence at one internal case review meeting per month to multidisciplinary clinical team for discussion and review
- Engage in collaborative discussion with clinical geneticists, genetic counselors, researchers, and subspecialists to refine variant classifications and recommendations
- Perform additional duties as requested
Qualifications- Advanced degree (MS, PhD, MD, or equivalent experience) in genetics, genomics, molecular biology, or related field.
- Demonstrated experience in clinical or research-based variant interpretation
- Familiarity with ACMG/AMP variant classification guidelines, use of genomic databases (e.g., ClinVar, gnomAD), and in-silico tools
Preferred: Experience with rare disease genomics, undiagnosed disease programs, or variant curation in a clinical or research laboratory environment
