About The Position

The Polavarapu Research Group at CHEO RI is seeking a highly motivated and computationally skilled Postdoctoral Fellow to lead the bioinformatics aspects of their genomics and multi-omics research activities. This role will contribute to projects focused on rare neuromuscular and neurodevelopmental disorders, emphasizing computational approaches to genomic data analysis, in silico variant interpretation, AI-enabled bioinformatics, and the development of scalable analytical workflows. The postholder will work within a multidisciplinary and collaborative research environment, providing computational and bioinformatic expertise to a team integrating genomic, transcriptomic, proteomic, phenotypic, and publicly available datasets for variant interpretation, gene discovery, genotype–phenotype studies, and translational rare disease research. This 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.

Requirements

  • 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
  • Eligible to work in Canada

Nice To Haves

  • Experience with: 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.

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

Benefits

  • Possibility of renewal for the contract

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What This Job Offers

Job Type

Full-time

Career Level

Entry Level

Education Level

Ph.D. or professional degree

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