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.