Clinical Genomic Scientist, Molecular Diagnostics Laboratory

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 (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 Clin Gen 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.

• 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.

• 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 Clin Var, gnom
  
  AD, 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.

• Prior experience working in a high volume molecular diagnostic laboratory;
• Experience with germline variant classification and gene curation as per ACMG and Clin Gen 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.

• 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.

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…