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Genome Bioinformatics Analyst

UPMC

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. #J-18808-Ljbffr UPMC

Vacancy posted 2 days ago
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