Variant Scientist/Open Rank Professor, 12 Months Salaried - Genome Sequencing Laboratory (CLIA [...]

Department College of Medicine, CLIA Lab Diagnostics, Institute for Pediatric Rare Diseases (IPRD) Responsibilities Variant Analysis & Interpretation Perform comprehensive review, classification, and annotation of genetic variants identified by whole genome sequencing, following ACMG/AMP and ClinGen guidelines. Curate evidence from public databases (e.g., ClinVar, gnomAD, OMIM), scientific literature, and internal laboratory data. Participate in multidisciplinary review of variants with laboratory directors, medical geneticists, and genetic counselors. Clinical Reporting Draft clinical reports for genome sequencing tests, ensuring clarity and clinical utility. Communicate findings to CLIA Lab Director. Contribute to laboratory variant databases and knowledge management systems. Quality & Compliance Ensure all variant interpretation and reporting activities comply with CLIA, CAP, and laboratory quality management standards. Assist in maintaining standard operating procedures for variant interpretation and reporting. Participate in proficiency testing, audits, and continual quality improvement initiatives. Collaboration & Education Collaborate with bioinformaticians, technologists, and other laboratory personnel on test development and validation. Support teaching and training activities, including workshops and case discussions with students, residents, fellows, and clinicians. Stay current with advances in genomic technologies, variant interpretation frameworks, and clinical genetics literature. Qualifications Master’s degree or PhD in Human Genetics, Genomics, Genetic Counseling, Molecular Biology, Bioinformatics, or related field from an accredited institution. Experience in clinical genomic data analysis and variant interpretation (can include fellowship or postdoctoral experience). Familiarity with ACMG/AMP variant classification guidelines. Strong knowledge of human genetics, Mendelian disease mechanisms, and rare disease biology. Experience with genomic databases and tools (ClinVar, OMIM, HGMD, gnomAD, LOVD, UCSC Genome Browser, etc.). Excellent written and verbal communication skills, with ability to convey complex genetic findings to variety of audiences. Preferred Qualifications At least 2 years of experience in clinical genomic data analysis and variant interpretation (can include fellowship or postdoctoral experience). Experience with genome sequencing in a CLIA‑certified laboratory setting. Prior experience with laboratory information management systems (LIMS) and variant databases. Familiarity with bioinformatics pipelines for next‑generation sequencing. Experience working in multidisciplinary clinical genomics teams. Considerations Open until filled. Position requires successful completion of a criminal history background check. Open Rank Professor and Clinical (non‑tenure earning) position. Rank is commensurate with experience. Equal Employment Opportunity FSU is an Equal Employment Opportunity Employer. Contact Information Dr. Cynthia Vied: View email address on click.appcast.io #J-18808-Ljbffr Florida State University