Bioinformaticist

Job Summary

The Bioinformaticist will support the joint UTA–Cook Children’s precision medicine and genomic research ecosystem by developing and maintaining analytical pipelines for genomic data, performing variant annotation and interpretation, building tools for clinical decision support, and advancing data integration across genomics, clinical phenotypes, and functional datasets. This role supports precision clinics, genome-informed care, and AI-enabled clinical workflows. The position will work within UTA’s Center for Innovation in Health Informatics (CIHI) and collaborate closely with Cook Children’s variant scientists, genetic counselors, clinicians, data scientists, and computational teams.

Minimum Qualifications

• Master’s degree in Bioinformatics, Computational Biology, Genetics, Data Science, Computer Science, or related field.
• Two (2) years of experience in genomic data processing, variant annotation, or large-scale data analysis, or an equivalent mix of education and relevant experience in similar roles.
• Proficiency in R and/or Python, SQL, Linux/Unix environments, and common bioinformatics workflows is required.

Preferred Qualifications

• PhD in Bioinformatics, Genetics, Computational Biology, or a related quantitative field.
• Experience integrating large multimodal datasets (genomic, phenotypic, functional).
• Hands‑on experience with VCF / FASTQ processing, variant interpretation frameworks, and cloud‑based deployments.
• Experience supporting clinical genetics programs or variant scientists.
• Experience with machine learning, predictive modeling, or structure‑informed variant analysis.
• Contributions to scientific publications or open‑source bioinformatics tools.

Essential Duties And Responsibilities Genomic Data Processing & Pipeline Development

• Develop, optimize, and maintain pipelines for SNV /indel calling, structural variant analysis, annotation, and QC.
• Implement cloud- and HPC‑based workflows for large‑scale genomic datasets.
• Ensure compliance with security, IRB, and PHI protection standards.

Variant Annotation & Interpretation Support

• Conduct gene‑specific variant curation, integrating multiple annotation resources (gnom
  
  AD, Clin Var, HGMD, Uni Prot).
• Support the UTA–Cook variant review boards by preparing curated variant summaries and pathogenicity assessments.
• Assist in developing ACMG / AMP‑aligned re‑analysis pipelines.

Data Integration & Knowledgebase Development

• Combine genomic, clinical, and experimental/functional datasets into harmonized, searchable structures.
• Contribute to UTA–Cook knowledge bases and web‑facing tools that support clinical genetics and translational research.

Machine Learning, Statistical Modeling & Informatics Research

• Apply ML/AI approaches for pathogenicity prediction, phenotype clustering, or multimodal data modeling.
• Support translational informatics studies in precision neurology.

Software, Web Tools, and Visualization

• Develop R/Shiny, Python, or JavaScript‑based applications for interactive variant exploration or phenotype dashboards.
• Produce visualizations for clinical teams, publications, and presentations.

Clinical Informatics & Decision Support

• Collaborate with Cook IT, Epic analysts, and UTA computational teams to transform unstructured data into structured formats using ontologies and NLP‑based approaches.
• Support clinical decision‑support tool development for precision neurology and rare disease programs.

Collaboration, Communication & Training

• Liaise with variant scientists, genetic counselors, bioinformaticians, researchers, and clinical partners.
• Mentor students and junior staff; assist with training programs in Genome‑Informed Care.

Other Duties as Assigned

Other duties may be assigned as necessary to fulfill the responsibilities of the role.

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