• Genome Bioinformatics Analyst

    UPMC (Pittsburgh, PA)


    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 (https://geneticslab.upmc.com/) .

    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