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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 filingsRequired qualificationsPh. 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

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Level

Lead L6

Location

New York, NY

Occupation

Bioinformatics Scientists

Industry

Research and Development in Biotechnology

Posted

3 days ago

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