UPMC Center for Clinical Genetics and Genomics 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.

• 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.
• PhD in molecular biology, human genetics, bioinformatics, computational biology or related field. MS degree may be considered with 2 or more years of relevant experience.
• Strong experience with standard molecular genetics technologies and Next Generation Sequencing.
• Clinical diagnostic experience preferred.
• Statistical and bioinformatics skills are a plus.
• Familiarity with commonly used databases (HGMD, ExAC 1000 genomes), and bioinformatics tools (samtools, IGV, ANNOVAR, GATK) and file formats (BED, VCR, FASTQ, BAM) preferred.
• Strong analytical and organizational skills.Excellent written and oral communication skills.
• Works effectively with an interdisciplinary team scientists, physicians, genetic counselors.
• Person must demonstrate a high degree of professionalism, enthusiasm and initiative on a daily basis.
• Ability to work in a fast-paced environment. Attention to detail is critical.