Genomics Sr Staff Scientist
Core
Interpret clinical genetic and genomic test results by prioritizing variants from sequencing data and drafting clinical reports for patient care.
Role type
Senior Staff Scientist, Clinical Genomics
Builds
Clinical-grade molecular diagnostic tests and variant interpretation workflows
Domain
Healthcare / Clinical Genomics
Deliverable
production ML models | product features | dashboards & analysis | research | client delivery | infrastructure | physical/clinical work
Required skills
Variant prioritization and interpretation, Next-generation sequencing (NGS) analysis, Clinical report drafting, Scientific literature review, Database curation (ClinVar, gnomAD, COSMIC), Quality assurance documentation
Preferred skills
Clinical validation design, SOP development, Productivity enhancement leadership, Change management
Technologies
NGS platforms, ClinVar, gnomAD, ExAC, HGMD, COSMIC
Responsibilities
Identify and classify clinically significant sequence variants (germline and/or somatic), Review patient medical records and abstract relevant scientific data, Develop and validate new clinical-grade genetic tests, Create verification and Standard Operating Procedure (SOP) documentation, Lead implementation of productivity enhancements, Contribute to CAP/CLIA audit preparations
Seniority
Senior Staff, hands-on IC with mentorship responsibilities
