Biocurator - Molecular Diagnostics

New York Genome Center
Job Location
NEW YORK, NY 10013

Please access our website for benefits information.

Job Description

The New York Genome Center is looking for a highly motivated, detail-oriented individual to join our rapidly expanding Clinical informatics division within the NYGC CLIA Laboratory. As a Biocurator you will be responsible for evaluating the effect of genomic variants on biological function of gene products, molecular pathways and their association with hereditary disorders and cancer. You will work as part of a team of highly experienced staff and scientists at the NYGC CLIA Laboratory.

Job duties will include:

  • Evaluating the effect of genomic variants on biological function of gene products, molecular pathways and their association with disease, using controlled vocabularies, ontologies and established guidelines
  • Mine and integrate data from scientific literature published by clinical and human genome research groups
  • Summarize results in written or oral reports for further evaluation by CLIA laboratory personnel
  • Knowledgebase construction of all variants and genomic data identified from NGS
  • Assist in algorithm development for computational annotation of variants
  • Analyze validation experiments for laboratory developed tests (LDT)
  • Develop and apply novel analysis approaches to aid variant prioritization
  • Assist CLIA laboratory personnel in preparing data, text and figures for LDT validation proposals, manuscripts and external presentations.
  • Prior experience working in CLIA environment is a plus
  • Previous laboratory bench experience
  • Knowledge of phenotype ontologies
  • Programming skills in Python, shell scripting, R, SQL
  • Experience of working in a Linux environment, experience with SGE
About Our Organization

The 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, color, religion, sex, sexual orientation, national origin, age, disability, or protected veteran status. 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.

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