UPMC · 19 hours ago
Genome Bioinformatics Analyst
Pittsburgh, PA
Full-time
Onsite
Entry, Mid Level
2+ years expUPMC is a healthcare provider seeking a Genome Bioinformatics Analyst to work independently in curating disease, gene, and variant knowledge. The role involves clinical test development, validation, and maintaining data analysis pipelines while collaborating with laboratory staff and physicians.
BiotechnologyHealth CareHospitalMedical
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
Qualification
Required
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
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
Preferred
Clinical diagnostic experience
Statistical and bioinformatics skills
Familiarity with commonly used databases (HGMD, ExAC 1000 genomes)
Familiarity with bioinformatics tools (samtools, IGV, ANNOVAR, GATK) and file formats (BED, VCR, FASTQ, BAM)
Company
UPMC
UPMC is one of the leading nonprofit health systems in the United States. A $10 billion integrated global health enterprise headquartered
10001+ employees
H1B Sponsorship
UPMC has a track record of offering H1B sponsorships. Please note that this does not
guarantee sponsorship for this specific role. Below presents additional info for your
reference. (Data Powered by US Department of Labor)
Distribution of Different Job Fields Receiving Sponsorship
Represents job field similar to this job
Trends of Total Sponsorships
2025 (3)
2024 (7)
2023 (4)
2022 (7)
2021 (7)
2020 (13)
Funding
Current Stage
Late StageTotal Funding
$0.46MKey Investors
Appalachian Regional Commission
2024-09-18Grant· $0.46M
Leadership Team
Leslie Davis
President and CEO
Frederick M. Hargett
Chief Financial Officer
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