UPMC Magee-Womens Hospital Clinical Genomics Lab (UCGL) is hiring a Genome Bioinformatics Analyst! This is a full-time daylight position Monday through Friday, and will work remotely.
Learn more about the UPMC Medical Genetics and Genomics Laboratories by visiting our website here.
Responsibilities:
• Designs and executes clinical validation studies to assess diagnostic test performance.
• Curates disease, gene, and variant knowledge. Helps implement curated knowledge, resources, and workflows into clinical operations.
• Participates in developmental and clinical research projects, as needed.
• Maintains SOP documentation of NGS bioinformatics pipeline.
• In consultation with laboratory staff, physicians and genetic counselors, participates in the review of patient results and develops interpretations for clinical reports.
• Participates in clinical test development as needed.
• Evaluates novel platforms and techniques in DNA sequencing, genotyping, and copy-number variation in order to assess suitability for diagnostic application.
• Maintains data analysis pipelines, monitors quality metrics and analyzes data sets.