Variant Curator - Genetics
Mount Sinai Health System, New York, NY, United States
Job Description
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.
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 Qualifications
Experience with rare disease genomics, undiagnosed disease programs, or variant curation in a clinical or research laboratory environment.
Equal Opportunity Employer
The Mount Sinai Health System is an equal opportunity employer, complying with all applicable federal civil rights laws. We do not discriminate, exclude, or treat individuals differently based on race, color, national origin, age, religion, disability, sex, sexual orientation, gender, veteran status, or any other characteristic protected by law. We are deeply committed to fostering an environment where all faculty, staff, students, trainees, patients, visitors, and the communities we serve feel respected and supported. Our goal is to create a healthcare and learning institution that actively works to remove barriers, address challenges, and promote fairness in all aspects of our organization.
Compensation
The Mount Sinai Health System (MSHS) provides salary ranges that comply with the New York City Law on Salary Transparency in Job Advertisements. The salary range for the role is $40,770.1 - $61,155.2 hourly. Actual salaries depend on a variety of factors, including experience, education, and operational need. The salary range does not include bonuses, incentives, differential pay, or other forms of compensation or benefits.
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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.
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 Qualifications
Experience with rare disease genomics, undiagnosed disease programs, or variant curation in a clinical or research laboratory environment.
Equal Opportunity Employer
The Mount Sinai Health System is an equal opportunity employer, complying with all applicable federal civil rights laws. We do not discriminate, exclude, or treat individuals differently based on race, color, national origin, age, religion, disability, sex, sexual orientation, gender, veteran status, or any other characteristic protected by law. We are deeply committed to fostering an environment where all faculty, staff, students, trainees, patients, visitors, and the communities we serve feel respected and supported. Our goal is to create a healthcare and learning institution that actively works to remove barriers, address challenges, and promote fairness in all aspects of our organization.
Compensation
The Mount Sinai Health System (MSHS) provides salary ranges that comply with the New York City Law on Salary Transparency in Job Advertisements. The salary range for the role is $40,770.1 - $61,155.2 hourly. Actual salaries depend on a variety of factors, including experience, education, and operational need. The salary range does not include bonuses, incentives, differential pay, or other forms of compensation or benefits.
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