New York Genome Center · 1 month ago
Clinical Genomic Scientist, Molecular Diagnostics Lab
New York, NY
Full-time
Hybrid
Mid Level
$85K/yr - $100K/yrThe New York Genome Center is an independent, nonprofit, academic research organization dedicated to advancing genomic research. They are seeking a Clinical Genomic Scientist responsible for clinical analysis and interpretation of Whole Genome Sequencing data, including variant curation, genotype-phenotype correlation, and assisting with clinical reports.
Genetics
Responsibilities
Identify, annotate and investigate the clinical significance of variants found in NGS-based clinical tests
Prepare variant assessment summary, classify variants as per ACMG criteria, maintain accurate and detailed records of variant classification
Identify and prioritize variants of interest using information from clinical notes
Assist with literature review for variants of clinical interest
Review results of Sanger sequencing qPCR, chromosomal microarray, or other assays used for confirmation of NGS findings and prepare variant level summary for clinical reporting
Prepare presentations for clinical case reviews and present evidence for multi-disciplinary review meetings
Participate in new assay validations and translational clinical activities as assigned
Qualification
Required
Masters or PhD in molecular biology, human genetics, biochemistry, or a related field is required
Experience in searching and extracting information from commonly used genomics databases such as ClinVar, gnomAD, HPO, NCBI etc
Strong knowledge of Molecular Biology and Mendelian genetic diseases
Excellent general laboratory and organizational skills, including the ability to work independently with minimal supervision and to train others in laboratory methods
Strong communication skills to work as a member of a collaborative team
Thrives in a fast-paced, rapidly changing, start-up like environment
Self-motivated and capable of analyzing and solving complex problems through innovative thought and experience
Preferred
Prior experience working in a high volume molecular diagnostic laboratory
Experience with germline variant classification and gene curation as per ACMG and ClinGen guidelines
Previous exposure to NGS based molecular diagnostic testing such as WGS, WES, and gene panels
Knowledge of phenotype ontologies
Prior experience with variant curation and interpretation from the clinical genome or exome data is highly desirable
Prior experience with somatic variant curation, database mining and reporting is a plus
Benefits
A full range of medical, financial, and other benefits
Generous time off
Company
New York Genome Center
The mission of New York Genome Center is to save lives by creating an unprecedented collaboration of technology, science, and medicine.
Founded in 2011
51-200 employees
H1B Sponsorship
New York Genome Center has a track record of offering H1B sponsorships. Please note that this does not
guarantee sponsorship for this specific role. Below presents additional info for your
reference. (Data Powered by US Department of Labor)
Distribution of Different Job Fields Receiving Sponsorship
Represents job field similar to this job
Trends of Total Sponsorships
2025 (17)
2024 (4)
2023 (11)
2022 (16)
2021 (6)
2020 (12)
Funding
Current Stage
Growth StageTotal Funding
$131M2019-05-23Grant· $125M
2015-01-01Grant· $3M
2012-01-01Grant· $3M
Leadership Team
Tom Maniatis
Evnin Family Scientific Director and CEO
Maria J.
Chief Financial Officer
Recent News
2025-05-04
2025-05-04
2025-05-04
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