Clinical Genomic Scientist, Molecular Diagnostics Lab

New York Genome Center • New York, NY • 2h ago

About the New York Genome CenterThe New York Genome Center (NYGC) is an independent, non-profit organization that leverages the collaborative resources of leading academic medical centers, research universities, and commercial organizations. Our vision is to transform medical research and clinical care in New York and beyond through the creation of one of the largest genomics facilities in North America, integrating sequencing, bioinformatics, and data management, as well as performing cutting-edge genomics research.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.Position DescriptionThe 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 (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 most current ACMG and ClinGen guidelines, geno@type-pheno@type 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.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 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.Position Requirements:- 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

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