Clinical Genomics Scientist II — WGS Case Analyst (Hybrid)

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 ... #J-18808-Ljbffr Hydrogen UK Ltd