The Diagnostics Development and NGS Data Scientist is responsible for assisting the Molecular Diagnostics Laboratory in developing and validating new clinical tests, and investigating the significance of somatic and germline variants identified in next generation sequencing-based clinical panels. Expertise in wet bench molecular methods, which may include tissue DNA/RNA extraction, PCR, capillary electrophoresis, RT-PCR, melting curve assays, NGS libraries, as well as variant analysis of SNVs, CNVs and structural variants found in NGS-based clinical tests are core responsibilities.
For test validations, the Scientist will author summary reports of the studies for the Director's review and approval. For variant analysis, the Scientist will critically assess research literature and perform database searches, using gnomAD, ClinVar and COSMIC, into the clinical significance of variants for classification and curation. Other responsibilities include assisting with training of laboratory medical technicians in new methods to implement clinical testing and workflows. The Scientist will assist in maintaining NYSDOH and DNV Standards and working with the Director to keep the laboratory in compliance with regulations as they relate to test validation. The Scientist will be working closely with medical technologists, pathologists, clinical geneticists and support staff.