Postdoctoral Fellow – Rare Disease Bioinformatics

Contract: 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.

Location: 401 Smyth Rd, Ottawa, ON, K1H 8L1.

Children’s Hospital of Eastern Ontario Research Institute Inc. (CHEO RI).

CHEO RI also honours all First Nations, Inuit and Métis peoples and their valuable past and present contributions to this land.

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.

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: 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 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, manage multiple projects and deadlines simultaneously, work independently and demonstrate initiative.
- Ability to present and communicate research findings effectively, share information effectively and collaboratively, demonstrate creativity and initiative to generate improvements.

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 multitask.
- Flexibility to work within a hybrid mode 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.

EEO / Diversity Statement

The CHEO Research Institute values diversity and is an equal opportunity employer. We are committed to providing an inclusive and barrier-free work workplace, starting with the hiring process, and welcome interest from all qualified applicants. Should an applicant require any accommodations during the application process, as per the Accessibility for Ontarians with Disabilities Act, please notify Human Resources at [email protected].

We value diverse and non-traditional career paths and perspectives, and value skills such as resilience, collaboration, and relationship-building. We welcome applications from members of racialized minorities, Indigenous peoples, persons with disabilities, persons of minority sexual orientations and gender identities, and others with the skills and knowledge to productively engage with diverse communities.

CHEO RI does not use AI in its recruitment and selection process.

Postes en français

NUMÉRO D’AFFICHAGE: #RI-26-032R

POSTE: Boursière ou boursier de recherches postdoctorales en bio-informatique des maladies rares

DURÉE: Temps plein (1,0 ETP), contrat de 2 ans avec possibilité de renouvellement

SALAIRE: 28,00$ - 33,00/heure, sera proportionnel aux compétences et à l’expérience.

RELÈVE DE: Dr. Kiran Polavarapu.

L’Institut de recherche du Centre hospitalier pour enfants de l’est de l’Ontario Inc. (IR de CHEO) est l’organisme de recherche du Centre de traitement pour enfants du Centre hospitalier pour enfants de l’est de l’Ontario (CHEO). ... (continues identically to the French section of responsibilities, qualifications, conditions, etc.)

📌 Postdoctoral Fellow | Temporary Full Time (1.0 FTE) | CHEO Research Institute (Ottawa)
🏢 Children’s Hospital of Eastern Ontario
📍 Ottawa