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Genome Bioinformatics Analyst

  • Job ID: 706694377
  • Status: Full-Time
  • Regular/Temporary: Regular
  • Hours:
  • Shift: Day Job
  • Facility: University of Pittsburgh Physicians
  • Department: Clinical Genomics
  • Location: 5560 Centre Avenue, Pittsburgh PA 15232
  • Union Position: No
  • Salary Range: $27.38 to $47.40 / hour

Description

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.

The ideal candidate will have strong experience with standard molecular genetic technologies and Next Generation Sequencing analysis. Clinical diagnostic experience preferred. Designs and executes clinical validation studies to assess diagnostic test performance. Ability to work collaboratively with cross functional teams such as laboratory staff, physicians and genetic counselors, participates in the review of patient results and develops interpretations for clinical reports. Strong background in Genomics preferred. Ability to execute genome and exome data analysis, QC checks along with variant identification and classification using the ACMG/AMP guidelines. Assess, develop, validate and maintain the pipelines for clinical as well as research projects. Familiarity with various NGS tools and databases required in interpretation of genomic data and ability to troubleshoot technical as well as scientific issues. Ability to write and maintain SOPs and other documentation for the various Bioinformatics pipelines used and developed at UGC. 

UGC offers the opportunity to work on clinical next generation sequencing analysis and variant interpretation. We are a high complexity clinical lab, with lots of variation in the day to day routine.

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.

 

Qualifications

  • 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 scientist, 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

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