Clinical Variant Scientist - Pathology & Immunology
Core
Interpret genetic variation from clinical genomic testing (targeted panels and genome-scale sequencing) to support diagnosis of inherited and acquired genetic conditions.
Role type
Clinical Variant Scientist (Pathology & Immunology)
Builds
Clinical genomic test reports and variant interpretations for patient care
Domain
Clinical Genomics / Medical Diagnostics
Deliverable
production ML models | dashboards & analysis
Required skills
Genetic variant analysis, Next Generation Sequencing (NGS) data analysis, Clinical guideline interpretation, Quality control metrics assessment, SOP development, Translational research support
Preferred skills
Ph.D. in relevant field, Analytical processes, Clinical laboratory operations, Scientific literature review, Process optimization
Technologies
Next Generation Sequencing (NGS), Clinical databases
Responsibilities
Analyze and interpret genetic variation from clinical genomic testing workflows; Integrate complex information from multiple sources to determine clinical applicability of genetic variants; Assess quality control metrics for NGS and variant interpretation; Aid clinical staff with variant interpretation; Develop tools and processes to assist with genomic testing and reporting; Support translational research projects
Seniority
Mid-level, hands-on IC
