Genome Bioinformatics Analyst

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.

Education

• PhD in Molecular Biology, Human Genetics, Bioinformatics, Computational Biology, or a related field required.
• A Master's degree in a related field may be considered with two or more years of relevant experience.

Experience & Knowledge

• Strong experience with molecular genetics technologies and Next-Generation Sequencing (NGS required.
• Clinical diagnostic laboratory experience preferred.
• Statistical and bioinformatics experience is a plus.
• Familiarity with genomic databases such as HGMD, ExAC, and 1000 Genomes preferred.
• Experience with bioinformatics tools, including Samtools, IGV, ANNOVAR, and GATK, as well as file formats such as BED, VCF, FASTQ, and BAM preferred.
• Strong analytical, critical thinking, and organizational skills.
• Excellent written and verbal communication skills.
• Ability to work effectively with interdisciplinary teams, including scientists, physicians, and genetic counselors.
• Demonstrated professionalism, initiative, and enthusiasm.
• Ability to thrive in a fast-paced environment while maintaining a high level of accuracy and attention to detail.

UPMC is an Equal Opportunity Employer/Disability/Veteran.