The New York Genome Center Clinical Laboratory is looking for a Staff Scientist to assist with clinical data analysis and reporting for constitutional genomic assays.
Essential responsibilities include, but are not limited to
- Identify, annotate and investigate the clinical significance of variants found in NGS-based clinical tests for constitutional disorders;
- Prepare variant assessment summary, classify variants as per ACMG criteria, maintain accurate and detailed records of variant classification;
- Use information from clinical notes to create a list of genes for inclusion or exclusion list for variant filtering and prioritizing;
- Assist with literature review and interpretation of sequencing data;
- Review Sanger sequencing and qPCR results and prepare variant level summary for clinical reporting;
- Evaluate and implement tools for reporting and tracking variants assessed for clinical significance;
- Assist in creation of precision medicine knowledge base of variant-disease associations in the context of constitutional disorders;
- Prepare presentations for clinical case reviews and present evidence for multi-disciplinary review meetings; and
- Participate in new assay validations and translational clinical activities as assigned.