Title:
Clinical Genomics Scientist II
Pay:$47.00-$54.00/hour
Location:
San Diego, CA or Remote (USA)
Duration:
2-year contract
Schedule:
Standard working hours
Responsibilities
Analyze clinical whole genome sequencing data in a CLIA-certified, CAP-accredited clinical laboratory setting.
- Conduct case analysis, interpretation, and reporting for two clinical whole genome sequencing tests, including medical notes review and phenotyping, variant analysis and triaging, gene and variant curation, and synthesis and contextualization of results based on the patient being tested.
- Draft language for inclusion in clinical reports.
- Problem-solve and develop strategies for assessing the analytical and clinical characteristics of genetic variants.
- Analyze clinical literature and apply findings to patient cases.
Requirements
- Proficient in applying ACMG/AMP guidelines for the interpretation and reporting of single nucleotide variants (SNVs), small insertions and deletions, and mitochondrial DNA SNVs.
- Proficient in applying ACMG/ClinGen standards for the interpretation and reporting of copy number variants (CNVs).
- Proficient in applying modifications to variant curation processes, as applicable and recommended by the ClinGen Sequence Variant Interpretation Working Group and ClinGen Variant Curation Expert Panels.
- Strong understanding of clinical applications of genetic information.
- Strong understanding of genotype-phenotype relationships.
- Ability to analyze and interpret medical and scientific literature.
- Excellent analytical and critical thinking skills.
- Basic understanding of statistical analyses.
- Strong written and verbal communication skills.
- Basic understanding of bioinformatics approaches to clinical genome analysis.
- Highly motivated, accurate, and detail-oriented, with the ability to think innovatively and solve problems effectively and efficiently.
- Demonstrated experience evaluating scientific literature, translating genetic information, and applying genetic analysis.
- Ability to manage a case load and deliver results within time-sensitive environments.
- Ability to work effectively under pressure, meet aggressive deadlines, and manage multiple activities simultaneously.
Education & Experience
- Advanced degree in a biological sciences field, or a master's degree with at least 2 years of experience in a clinical laboratory setting.
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