Clinical Genomics Scientist 2
San Diego, CA (Hybrid)
Schedule:
Flexible
Duration:
12-month contract (potential to extend/convert)
Pay:$49-54/hr (W2)
Our client is a global leader in genomics and sequencing technology, advancing the understanding of the human genome to improve human health. They are seeking a Clinical Genomics Scientist 2 to support analysis of clinical whole genome sequencing data within a CLIA-certified, CAP-accredited laboratory environment. This role requires 2–10 years of experience and offers the opportunity to contribute directly to diagnostic reporting for complex genetic diseases.
Essential Functions and Responsibilities
- Conduct all aspects of case analysis, interpretation, and reporting for clinical whole genome sequencing tests, including medical notes review and phenotyping, variant analysis and triaging, and gene and variant curation
- Synthesize and contextualize results with respect to the individual patient being tested and draft language for inclusion on clinical reports
- Problem-solve and strategize for the assessment of analytical and clinical characteristics of genetic variants
- Analyze clinical literature and apply findings to patient cases
Education and Experience
- Advanced Degree in a Biological Sciences field, OR
- Master's Degree with a minimum of 2 years of experience in a clinical laboratory setting
Knowledge and Skills
- Proficient in applying ACMG/AMP guidelines for interpretation and reporting of single nucleotide variants (SNVs), small insertions and deletions, and mitochondrial DNA SNVs
- Proficient in applying ACMG/ClinGen standards for interpretation and reporting of copy number variants (CNVs)
- Proficient in applying modifications to variant curation processes as suggested by the ClinGen Sequence Variant Interpretation Working Group and ClinGen Variant Curation Expert Panels
- Strong understanding of clinical applications of genetic information and genotype-phenotype relationships
- Ability to analyze medical and scientific literature
- Excellent analytical and critical thinking skills
- Basic understanding of statistical analyses
- Superior written and verbal communication skills
- Basic understanding of bioinformatics approaches to clinical genome analysis
- Highly motivated, accurate, and detail-oriented with a proven ability to think innovatively toward solving problems effectively and efficiently
- Demonstrated experience evaluating scientific papers, translating genetic information, and applying genetic analysis
- Ability to manage case load and deliver results in a time-sensitive manner
- Ability to work effectively under pressure, meet aggressive deadlines, and handle multiple activities simultaneously
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