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

Position

Postdoctoral Fellow in Rare Disease Bioinformatics, Polavarapu Research Group, CHEO RI

About the Role

We are seeking a highly motivated and computationally skilled Postdoctoral Fellow to lead the bioinformatics aspects of the genomics and multi-omics research activities within the Polavarapu Research Group at CHEO RI. The successful candidate will contribute to projects focused on rare neuromuscular and neurodevelopmental disorders, with emphasis on computational approaches to genomic data analysis, in silico variant interpretation, AI-enabled bioinformatics approaches, and development of scalable analytical workflows. Working within a multidisciplinary and collaborative research environment, the postholder will provide computational and bioinformatic expertise to a team working on the integration of genomic, transcriptomic, proteomic, phenotypic, and publicly available datasets for variant interpretation, gene discovery, genotype–phenotype studies, and translational rare disease research. The position involves close collaboration with clinicians, wet-lab scientists, bioinformaticians, and international research consortia. The successful candidate will contribute to the development and implementation of modern computational genomics workflows, including emerging AI/ML-based analytical approaches and reproducible bioinformatics pipelines.

Main 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, variant calling, annotation, variant prioritization and interpretation
• Interpret genomic variants 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

Essential 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, variant 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 similar 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
• Ability to work collaboratively in multidisciplinary teams
• Ability to manage multiple projects and deadlines simultaneously
• Ability to work independently and demonstrate initiative
• Ability to present and communicate research findings effectively
• Able to share information in an effective and collaborative manner
• Able to be creative, challenge, and demonstrate initiative to generate improvements

Pay & Schedule

• Salary: $28.00 - $33.00 per hour, commensurate with skills and experience
• Term: Full Time, 1.0 FTE, 2-year contract with possibility of renewal
• Reports to: Dr. Kiran Polavarapu
• 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.

Other Requirements

• Eligible to work in Canada
• Compliance with CHEO RI's occupational health, immunization, and health‑surveillance requirements, as applicable to the role and work environment
• Completion of a Police Record Check, in accordance with institutional and regulatory requirements