Variant Scientist​/Professor Genome Sequencing Laboratory; CLIA Lab Diagnostics

Position: Variant Scientist/Open Rank Professor, 12 Months Salaried - Genome Sequencing Laboratory (CLIA Lab Diagnostics -
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 Clin Gen guidelines.

* Curate evidence from public databases (e.g., Clin Var, gnom

AD, 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 (Clin Var, OMIM, HGMD, gnom

AD, 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.

Helpful

* The Florida Institute for Pediatric Rare Diseases (IPRD) is seeking Variant Scientists to join its CLIA-certified Genome Sequencing Diagnostic Facility. This role is one of several new positions in clinical genetics and genomics for which IPRD is actively recruiting, as we build a multidisciplinary team of experts in genomic medicine at Florida State University. The Variant Scientists will play a critical role in the interpretation and reporting of genomic data generated in the laboratory, with a primary focus on rare disease diagnostics, while working in a collaborative environment with colleagues across multiple professional levels.

* The Variant Scientist will be integral to the success and growth of IPRD's statewide genomics initiative to provide genome sequencing for newborns and rare disease patients across Florida. As demand for clinical genome sequencing increases, this position will expand in scope, with opportunities to contribute to laboratory innovation, clinical trials, and genomic data-sharing initiatives. By joining a lively and interactive team of laboratory directors, medical geneticists, genetic counselors, technologists, and researchers, the Variant Scientist will help establish FSU and IPRD as leaders in delivering clinically actionable genomic insights to patients and families.

* This position is central to IPRD's mission of bringing advanced genomic medicine to patients and families across Florida. Working closely with…