Variant Curator - Genetics & Genomic Sciences

Mount Sinai Health SystemNew York, NY
Onsite

About The Position

The 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.

Requirements

  • Supports genomic analysis for patients with complex, unsolved medical conditions.
  • Responsible for curation, interpretation, and prioritization of variants identified through whole exome sequencing (WES) and whole genome sequencing (WGS).
  • Contributes to multidisciplinary diagnostic efforts.
  • Requires close collaboration with the Mount Sinai Center for Undiagnosed Diseases clinical team.
  • Expected to present prioritized findings at monthly internal case review meetings.
  • Expected to analyze approximately 50 cases per year.

Responsibilities

  • Curation, interpretation, and prioritization of variants identified through whole exome sequencing (WES) and whole genome sequencing (WGS).
  • Contributing to multidisciplinary diagnostic efforts.
  • Close collaboration with the Mount Sinai Center for Undiagnosed Diseases clinical team.
  • Presentation of prioritized findings at monthly internal case review meetings.
  • Analyze approximately 50 cases per year.
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