Staff Bioinformatics Scientist

Job Summary

Bridging the gap between genomic variants and clinical applications, the full-time Staff Bioinformatics Scientist will design automated approaches for variant annotation, integrate AI/ML techniques into production pipelines, and monitor the performance of these systems while working remotely.

Key responsibilities

• Design and prototype automated methods for the annotation and classification of germline variants
• Evaluate and integrate AI/ML approaches for evidence extraction and disease-to-gene mapping into production workflows
• Lead analytical validation studies to ensure compliance with CLIA/CAP standards and support LDT filings

Required qualifications

• Ph.D. in Bioinformatics, Computational Biology, Human Genetics, or a related field with 5+ years of clinical genomics experience
• Deep expertise in human molecular genetics and ACMG/AMP variant interpretation guidelines
• Advanced proficiency in genetic file formats, particularly VCF, and data science tools such as SQL and Python
• Demonstrated ability to evaluate emerging technical approaches for feasibility and impact
• Strong judgment in assessing AI-generated analyses for scientific validity and regulatory compliance