Genome Bioinformatics Analyst

UPMC Senior Communities$80K — $95K *
Pharmaceuticals & Biotech
Less than 5 years of experience
Job Overview by Ladders

Qualifications

  • PhD in molecular biology, human genetics, bioinformatics, computational biology, or related field.
  • MS degree accepted with 2+ years relevant experience.
  • Strong experience with molecular genetics technologies and Next Generation Sequencing (NGS).
  • Clinical diagnostic experience preferred.
  • Familiarity with databases like HGMD, ExAC, 1000 genomes, and bioinformatics tools such as samtools and GATK is preferred.
  • Strong analytical and organizational skills essential.
  • Excellent communication and teamwork abilities.

Responsibilities

  • Design and execute clinical validation studies to assess diagnostic test performance.
  • Curate disease, gene, and variant knowledge for implementation into clinical operations.
  • Participate in developmental and clinical research projects.
  • Maintain SOP documentation of NGS bioinformatics pipeline.
  • Review patient results in collaboration with laboratory staff and interpret clinical reports.
  • Contribute to clinical test development as necessary.
  • Evaluate novel DNA sequencing platforms for diagnostic application.
  • Maintain data analysis pipelines and monitor quality metrics.

Benefits

  • Full-time daylight position with a Monday to Friday schedule.
  • Remote work opportunity.
  • Participation in a leading clinical genomics team.
  • Engagement in both clinical and developmental research projects.
Full Job Description
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.


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.
  • 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

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