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Genome Bioinformatics Analyst

  • Job ID: 541204720
  • Status: Full-Time
  • Regular/Temporary: Regular
  • Hours: Daylight Monday - Friday
  • Shift: Day Job
  • Facility: UPMC Presbyterian
  • Department: Molecular Gen Path
  • Location: 200 Lothrop St, Pittsburgh PA 15213
  • Union Position: No
  • Salary Range: $26.58 to $46.02 / hour

Description

UPMC Presbyterian is hiring a Genome Bioinformatics Analyst to join the Molecular and Genomic Pathology Laboratory (MGP) team!  This role will work a daylight schedule Monday through Friday. No weekends or holidays are required!  

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The Molecular and Genomic Pathology Laboratory (MGP) is a dynamic state-of-the-art clinical laboratory that prides itself on providing the highest quality of patient care in the fields of inherited diseases, hematological malignancies, and solid tumors utilizing cutting-edge molecular testing platforms and informatics approaches exemplified by next-generation sequencing. MGP offers its staff a challenging and rewarding career by offering a wide variety of job responsibilities as well as opportunities to identify and build upon individual strengths. MGP promotes lab-wide collaboration and teamwork where each staff member is valued for the unique skill set they can offer the team.

Purpose:
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.

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

  • 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.
  • Familiarity with NGS datasets
  • Solid understanding of genetic variants within context of disease.
  • Familiarity with commonly used databases (HGMD, ExAC 1000 genomes), and bioinformatics tools (samtools, IGV, ANNOVAR, GATK) and file formats (BED, VCR, FASTQ, BAM) preferred.
  • Ability to search for and read literature related to detected variant significance.
  • Strong analytical and organizational skills.
  • Works effectively with interdisciplinary team scientists, physicians, genetic counselors.
  • 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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   Current UPMC employees must apply in HR Direct