UPMC Magee-Womens Hospital Clinical Genomics Lab (UCGL) 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.
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.
- 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.
Licensure, Certifications, and Clearances:
- Act 34
UPMC is an Equal Opportunity Employer/Disability/Veteran