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Clinical Genomics Scientist Clinical Laboratory


New York Genome Center

Job Location

101 Avenue of the Americas
New York, NY 10013
United States

Job Description

The New York Genome Center is looking for a highly motivated, detail-oriented individual to join our rapidly expanding CLIA certified Molecular Diagnostic Laboratory. Clinical Genomic Scientist(s) (CGS) will report to the Laboratory Directors and will be responsible for clinical analysis and interpretation of Whole Genome Sequencing (WGS) data. Responsibilities include but are not limited to variant curation and interpretation following the ACMG and ClinGen guidelines, genotype-phenotype correlation, variant database maintenance and mining, assistance with drafting clinical reports, and assisting Lab Directors with other day-to-day tasks. Clinical Genomic Scientists will work as a part of a team of highly experienced molecular diagnostic laboratory and informatics staff to produce clinical reports from WGS data. These positions are anticipated to be remote or hybrid remote / onsite.

Multiple CGS positions are available. Candidates with extensive experience in a CLIA-certified molecular diagnostic laboratory may be considered for a Senior or Lead CGS position

Key Responsibilities include, but are not limited to:

Identify, annotate and investigate the clinical significance of variants found in NGS-based clinical tests;
Prepare variant assessment summary, classify variants as per current ACMG criteria, maintain accurate and detailed records of variant classification;
Using information from clinical notes, create a list of genes for inclusion or exclusion list for variant filtering and prioritizing;
Assist with literature review and interpretation of sequencing data;
Review Sanger sequencing and qPCR results and prepare variant level summary for clinical reporting;
Implement tools to track and report variants and create a knowledge base and the internal variant database for various diseases;
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.

Position Requirements:

Masters or PhD in molecular biology, human genetics, biochemistry, or a related field is required for Clinical Genomic Scientist position.
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;
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.


Prior experience working in a high volume molecular diagnostic laboratory;
Experience with variant classification as per ACMG guidelines;
Previous exposure to NGS based molecular diagnostic testing such as WGS, WES, and gene panels.
Knowledge of phenotype ontologies;
Bioinformatics experience and background are welcomed
Prior experience with variant curation and interpretation from the clinical genome or exome data is highly desirable


Technical and Professional Skills: Consistently demonstrates skills and knowledge relevant for current role; strives to expand the depth and breadth of technical and professional skills; works with a high level of integrity; exhibits focus and discipline; appropriately prioritizes, manages expectations and delivers on commitments.
Collaborative & Communicative: Models collaboration and teamwork; brings out the best in others; effectively works with all levels, internally and externally; respects and embraces diversity of perspective; communicates clearly and listens carefully; uses good judgment as to what to communicate and when to do so.
Adaptable & Innovative: Adaptable and embraces change; develops new insights and pursues improvements and efficiency; fosters exchange of new ideas and willing to challenge the status quo; takes initiative and is solution-oriented; engages in work with passion and curiosity.

Work Flexibility

NYGC has established a flexible work policy to give employees and other staff more ability to balance their work, personal commitments, and commuting challenges. The incumbent in this position is eligible for a flexible work schedule, a hybrid remote work arrangement or a fully remote work arrangement with supervisory approval. This position must be based in the U.S.A.


The pay range for this position is $85-95k per year; base pay offered may vary depending on job-related knowledge, skills, and experience. In addition, NYGC offers a full range of medical, financial, and other benefits as well as generous time off.

FLSA Status – Exempt
This position is eligible for visa sponsorship and relocation assistance.

About Our Organization

About the New York Genome Center

The New York Genome Center (NYGC) is an independent, nonprofit, academic research organization dedicated to advancing genomic research. NYGC scientists and staff are furthering new approaches to diagnosing and treating neurological diseases and cancer through their unique capabilities in whole genome sequencing, RNA sequencing, state-of-the art analytics, and the development of genomic tools. NYGC concentrates specifically on disease-based research in the following areas: neuropsychiatric disease (autism, schizophrenia, bipolar); neurodegenerative disease (ALS, Alzheimer’s, Parkinson’s, Huntington’s), and cancer.

Located in Lower Manhattan, the New York Genome Center was founded by and remains closely affiliated with twelve leading academic medical centers and research universities in the New York region and beyond, engaging in research projects with and for these institutions. Essential to our collaborative work is an outstanding faculty, whose members typically hold a joint appointment at NYGC and a partner university. They support our scientific mission by conducting independent research in areas of mutual interest to us and the wider scientific community.

Equal Opportunity

Diversity, equity, and inclusion are central to the core mission at the NYGC. We strive to create a workplace environment that is welcoming and fair to all regardless of race, ethnicity, gender, sexual orientation, physical ability, or religion. We believe that when people of various backgrounds, life experiences, and perspectives work together in an inclusive and equitable environment we gain new and valuable perspectives that otherwise would have been missed. Valuing and supporting all NYGC employees as individuals while helping them realize their full potential is critical to promoting greater collaboration, innovation, and discovery – fostering a sense of belonging for our greatest strength, our people. We recognize that there is still work to be done that will require sustained commitment from the entire organization.

The New York Genome Center is a VEVRAA Federal Contractor. All qualified applicants will receive consideration for employment and will not be discriminated against on the basis of race, creed, color, gender, religion, national origin, sexual orientation, age, disability, genetic predisposition or carrier status, protected veteran or military status, domestic violence victim status, partnership status, caregiver status, alienage or citizenship status, marital status, or any other characteristic protected by applicable law. The New York Genome Center takes affirmative action in support of its policy to hire and advance in employment individuals who are minorities, women, protected veterans, and individuals with disabilities.