Variant Scientist/Open Rank Professor, 12 Months Salaried - Genome Sequencing Laboratory (CLIA Lab Diagnostics - Medicine)

Responsibilities

• 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.
• 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.

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.