Clinical Genomics Scientist
Core
Classify and interpret human genetic variants from NGS panel, WES, and WGS tests to generate clinical reports for patient diagnosis and treatment.
Role type
Senior IC Clinical Genomics Scientist
Builds
High-quality clinical molecular reports and variant classification data for rare disease diagnosis
Domain
Clinical genomics / Rare disease diagnostics
Deliverable
production ML models | clinical reports
Required skills
ACMG variant classification, NGS data interpretation (WES/WGS), scientific literature curation, clinical report writing, HGVS nomenclature, genome browser usage, in silico tool proficiency
Preferred skills
PhD in genetics/molecular biology, 3+ years variant interpretation experience, experience with large-scale NGS datasets
Technologies
NGS sequencing platforms, genome browsers, in silico prediction tools, variant databases
Responsibilities
Classify inherited sequence variants using ACMG criteria; Triage variants to determine phenotypic overlap; Generate high-quality clinical reports; Perform quality control on molecular reports; Curate variants, genes, and diseases for clinical relevance; Collaborate with bioinformatics and software development teams
Seniority
Senior, hands-on IC
