Genome Bioinformatics Analyst

UPMC Senior Communities • $70K — $95K *
Pittsburgh, PA 15237In-Person
Pharmaceuticals & Biotech
Less than 5 years of experience
Today
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Job Overview by Ladders

Qualifications

  • PhD in Molecular Biology, Human Genetics, Bioinformatics, Computational Biology, or a related field required.
  • Master's degree in a related field may be considered with two or more years of relevant experience.
  • Strong experience with molecular genetics technologies and Next-Generation Sequencing (NGS) required.
  • Clinical diagnostic laboratory experience preferred.
  • Familiarity with genomic databases and bioinformatics tools preferred.

Responsibilities

  • Designs and executes clinical validation studies for diagnostic test performance.
  • Curates disease, gene, and variant knowledge; implements curated resources into clinical operations.
  • Participates in developmental and clinical research projects as needed.
  • Maintains SOP documentation of NGS bioinformatics pipeline.
  • Reviews patient results and develops clinical report interpretations with lab staff and genetic counselors.
  • Evaluates novel platforms and techniques for diagnostic applications in DNA sequencing and genotyping.
  • Maintains data analysis pipelines and monitors quality metrics.

Benefits

  • Collaborative work environment with experts in the field.
  • Opportunities for professional development and continuous learning.
  • Focus on advancing precision medicine and patient care.
  • Involvement in innovative research initiatives.
  • Regular daytime hours with a Monday through Friday schedule.
Full Job Description
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Join UPMC Presbyterian's Molecular & Genomic Pathology team as a Genome Bioinformatics Analyst and play a key role in advancing precision medicine. In this unique opportunity, you will analyze and interpret next-generation sequencing (NGS) results that directly impact patient care, collaborating with laboratory and clinical experts to ensure the highest standards of diagnostic accuracy. This position is ideal for candidates with a strong background in genetics, molecular biology, or genomic medicine who are passionate about translating complex genetic data into meaningful clinical insights. Working onsite in Oakland, Pittsburgh, Monday through Friday daylight hours, you'll contribute to variant interpretation, knowledge curation, clinical test development, and innovative research initiatives while continuously expanding your expertise in the rapidly evolving field of genomic 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:

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Education
  • PhD in Molecular Biology, Human Genetics, Bioinformatics, Computational Biology, or a related field required.
  • A Master's degree in a related field may be considered with two or more years of relevant experience.

Experience & Knowledge
  • Strong experience with molecular genetics technologies and Next-Generation Sequencing (NGS) required.
  • Clinical diagnostic laboratory experience preferred.
  • Statistical and bioinformatics experience is a plus.
  • Familiarity with genomic databases such as HGMD, ExAC, and 1000 Genomes preferred.
  • Experience with bioinformatics tools, including Samtools, IGV, ANNOVAR, and GATK, as well as file formats such as BED, VCF, FASTQ, and BAM preferred.
  • Strong analytical, critical thinking, and organizational skills.
  • Excellent written and verbal communication skills.
  • Ability to work effectively with interdisciplinary teams, including scientists, physicians, and genetic counselors.
  • Demonstrated professionalism, initiative, and enthusiasm.
  • Ability to thrive in a fast-paced environment while maintaining a high level of accuracy and attention to detail.


About UPMC Senior Communities

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Join UPMC Senior Communities to assist in transforming the experience of aging through top-tier care and wellness programs. This is an opportunity to be part of a team that values leadership, diversity, and innovation in the healthcare sector. Lead in a unique role where skills in healthcare, empathy, and leadership converge to enhance the lives of seniors. UPMC Senior Communities stands at the forefront of the industry, integrating advanced technology and personalized care practices. Engage with a professional network of healthcare providers and administrators dedicated to pioneering improvements in senior living. Collaborate with over 3,000 dedicated professionals across various facilities.

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