Postdoctoral Fellow | Temporary Full Time (1.0 FTE) | CHEO Research Institute

About the role

The Postdoctoral Fellow will lead the bioinformatics aspects of the genomics and multi-omics research activities within the Polavarapu Research Group at CHEO RI. The position involves close collaboration with clinicians, laboratory scientists, bioinformaticians, and international research consortia.

Responsibilities

• Develop, optimize, and maintain scalable and reproducible bioinformatics workflows for genomic analysis and variant interpretation
• Support development and implementation of AI/ML-enabled bioinformatics and variant interpretation workflows
• Perform end-to-end genomic analyses including:
• FASTQ processing
• Alignment
• Variants calling
• Variants annotation and prioritization
• Variant interpretation using current best practices and advanced in silico approaches, including:
• Splicing prediction tools
• Structural prediction frameworks
• Regulatory/non-coding variant interpretation tools
• Work within Linux/HPC/cloud-based computational environments and contribute to reproducible computational infrastructure
• Develop and maintain containerized computational workflows using technologies such as Docker, Singularity/Apptainer, or related systems
• Integrate computational findings with phenotypic and clinical information to support biologically and clinically meaningful interpretation
• Collaborate closely with clinicians, laboratory scientists, trainees, and external collaborators to support translational genomics research
• Contribute to preparation of manuscripts, presentations, reports, and grant applications
• Present research findings at internal meetings, workshops, and scientific conferences
• Perform other duties as assigned to support the goals and objectives of the Polavarapu Research Group

Qualifications, Skills, and Abilities

• PhD in bioinformatics, computational biology, genomics, computer science, or related discipline
• Strong experience in bioinformatic analysis of next-generation sequencing datasets (e.g., WES/WGS, RNA-seq)
• Experience with genomic analysis workflows including:
• FASTQ → BAM/CRAM → VCF pipelines
• Variants annotation and prioritization workflows
• Strong programming and command-line skills with experience using:
• Linux/Unix
• Python and/or R
• Experience using in silico variant interpretation approaches for:
• Splicing variants
• Missense/structural variants
• Regulatory/non-coding variants
• Familiarity with genomic databases and resources such as:
• gnomAD
• ClinVar
• GTEx
• or similar platforms
• Experience developing and maintaining reproducible computational workflows/pipelines
• Familiarity with HPC and/or cloud-based computational environments
• Experience with containerisation technologies such as:
• Docker
• Singularity/Apptainer
• or related systems
• Ability to work independently and collaboratively within a multidisciplinary research environment
• Strong organizational and communication skills

Preferred Experience

• Multi-omics integration
• Proteomics datasets
• AI/ML/LLM approaches in genomics
• Familiarity with advanced computational genomics tools/frameworks such as:
• AlphaFold
• AlphaGenome
• Enformer
• Borzoi
• Hail
• Spark
• or related tools
• Experience supporting APIs, databases, or web-based genomic applications
• Familiarity with rare disease genomics and phenotype-driven analysis approaches
• Experience contributing to collaborative national or international genomics projects/consortia
• Excellent written and verbal communication skills
• Able to work collaboratively in multidisciplinary teams
• Able to manage multiple projects and deadlines simultaneously
• Able to work independently and demonstrate initiative
• Able to present and communicate research findings effectively

Working Conditions

Biology and computational research environment; exposure to students and technical support staff. Able to work in a dynamic environment and be able to multi-task. Flexibility to work within a hybrid model that combines remote work with on-site presence as required. Flexible working hours may occasionally be required to support collaborations across time zones. Able to travel internationally.