Genome Bioinformatics Analyst

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Join UPMC Presbyterian's Molecular & Genomic Pathology team as a Genome Bioinformatics Analyst and play a key role in advancing precision medicine. In this unique opportunity, you will analyze and interpret next-generation sequencing (NGS) results that directly impact patient care, collaborating with laboratory and clinical experts to ensure the highest standards of diagnostic accuracy. This position is ideal for candidates with a strong background in genetics, molecular biology, or genomic medicine who are passionate about translating complex genetic data into meaningful clinical insights. Working onsite in Oakland, Pittsburgh, Monday through Friday daylight hours, you'll contribute to variant interpretation, knowledge curation, clinical test development, and innovative research initiatives while continuously expanding your expertise in the rapidly evolving field of genomic diagnostics.

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.