Postdoctoral Fellow in Rare Disease Bioinformatics

JOB DESCRIPTION
Posting # – RI-26-032R

POSITION: Postdoctoral Fellow in Rare Disease Bioinformatics
Polavarapu Research Group, CHEO RI
New Position
TERM: Full Time, 1.0 FTE, 2-year contract with possibility of renewal
SALARY: $28.00 – $33.00 per hour, will be commensurate with skills and experience
REPORTS TO: Dr. Kiran Polavarapu
Children’s Hospital of Eastern Ontario Research Institute Inc. (“CHEO RI”) is the research arm of the Children’s Hospital of
Eastern Ontario – Ottawa Children’s Treatment Centre (“CHEO”) and an affiliated institute of the University of Ottawa.
We acknowledge that Ottawa is built on un-ceded Algonquin Anishinabek territory. The Algonquin Anishinabek Nation
have lived on this territory for millennia and we honour them and this land. Their culture and presence have nurtured and
continue to nurture this land. CHEO RI also honours all First Nations, Inuit and Métis peoples and their valuable past and
present contributions to this land. CHEO is a beloved institution and workplace that is widely recognized for being an
anchor in our community. CHEO RI works to create new knowledge and evidence to support CHEO in its provision of worldclass care to our children. Our mission at CHEO RI is to connect exceptional talent and technology in pursuit of life-changing
research for every child, youth and family in our community and beyond.
CHEO RI has an immediate requirement for a Postdoctoral Fellow in Rare Disease Bioinformatics.
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.

The Postdoctoral Fellow will:
• 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:
o FASTQ processing
o Alignment
o Variant calling
o Annotation
o Variant prioritization and interpretation
• Interpret genomic variants using current best practices and advanced in silico approaches, including:
o Splicing prediction tools
o Structural prediction frameworks
o 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
Essential
• 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:
o FASTQ → BAM/CRAM → VCF pipelines
o Variant annotation and prioritization workflows
• Strong programming and command-line skills with experience using:
o Linux/Unix
o Python and/or R
• Experience using in silico variant interpretation approaches for:
o Splicing variants
o Missense/structural variants
o Regulatory/non-coding variants
• Familiarity with genomic databases and resources such as:
o gnomAD
o ClinVar
o GTEx
o 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:
o Docker
o Singularity/Apptainer
o or similar systems
• Ability to work independently and collaboratively within a multidisciplinary research environment
• Strong organizational and communication skills
Preferred
• Experience with:
o Multi-omics integration
o Proteomics datasets
o AI/ML/LLM approaches in genomics
• Familiarity with advanced computational genomics tools/frameworks such as:
o AlphaFold
o AlphaGenome
o Enformer
o Borzoi
o Hail
o Spark
o 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.