About this role
Purpose:
The Genome Bioinformatics Analyst works independently to curate disease, gene and variant knowledge including variant interpretation, reporting and consultation with laboratory staff, physicians and genetic counselors. The analyst participates in clinical test development, validation and maintenance of data analysis pipelines, monitoring of quality metrics and the analysis of large datasets. This position is ideal for a post-doctoral candidate, who is interested in a career in clinical genomics and molecular 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.
Educational/Knowledge Requirements: 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. Requirements: 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.
Licensure, Certifications, and Clearances:
- Act 34
UPMC is an Equal Opportunity Employer/Disability/Veteran
Other facts
About UPMC
UPMC is a world-renowned, nonprofit health care provider and insurer committed to delivering exceptional, people-centered care and community services. Headquartered in Pittsburgh and affiliated with the University of Pittsburgh Schools of the Health Sciences, UPMC is shaping the future of health through clinical and technological innovation, research, and education. Dedicated to advancing the well-being of our diverse communities, we provide nearly $2 billion annually in community benefits, more than any other health system in Pennsylvania. Our 100,000 employees — including more than 5,000 physicians — care for patients across more than 40 hospitals and 800 outpatient sites in Pennsylvania, New York, and Maryland, as well as overseas. UPMC Insurance Services covers more than 4 million members, providing the highest-quality care at the most affordable price. To learn more, visit UPMC.com.
What you'll do
- The Genome Bioinformatics Analyst is responsible for curating disease, gene, and variant knowledge, and participating in clinical test development and validation. They also maintain data analysis pipelines and collaborate with laboratory staff and healthcare professionals to interpret patient results.
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