Bioinformatician

The Hospital for Sick Children; Toronto; On-site; CAD 90,000 - 130,000; Full time

Benefits offered by this job

Health insurance

HOOPP pension plan

Well-being program

Equity, Diversity & Inclusion

Job summary

The Mital Lab at SickKids seeks a highly motivated Bioinformatician to lead genomics analyses, build scalable workflows, and integrate multi-omics data to advance pediatric cardiovascular research. You will collaborate with clinicians, scientists, and trainees to translate discoveries into improved diagnostics and treatments.

Qualified candidates have advanced degrees in relevant fields and strong programming, variant interpretation, and data integration skills, with a commitment to equity and

Qualifications

• M.Sc. or Ph.D. in Genetics, Genomics, Bioinformatics, Computational Biology, Biomedical Sciences, Computer Science, or a related field.
• Proficiency in programming or scripting languages such as Python, R, Bash, or equivalents.
• Experience developing or applying bioinformatics workflows for genomic data processing on HPC platforms.

Responsibilities

• Perform comprehensive analyses of genomic datasets generated through whole genome sequencing of patients and families with heart disease and controls.
• Develop, implement, and maintain scalable bioinformatics workflows for processing, QC, alignment, variant calling, annotation, and interpretation of genomic data.
• Integrate multi-omics datasets to identify biomarkers, disease patterns, and potential targets.
• Apply ACMG/AMP guidelines for variant interpretation and classification in sequencing datasets.
• Collaborate with interdisciplinary team to support genomic discovery and translational research initiatives.

Skills

Genomics data analysis

Python/R programming

Bioinformatics workflows

Data visualization

Team collaboration

Education

M.Sc. or Ph.D. in Genetics/Genomics/Bioinformatics

Tools

Nextflow

Snakemake

HPC

Genomic databases

Job description

Dedicated exclusively to children and their families, The Hospital for Sick Children (SickKids) is one of the largest and most respected paediatric healthcare centres in the world. As innovators in child health, we lead and partner to improve the health of children through the integration of healthcare, leading-edge research and education. Our reputation would not have been built - nor could it be maintained - without the skills, knowledge and experience of the extraordinary people who come to work here every day. SickKids is committed to ongoing learning and development, and features a caring and supportive work environment that combines exceptionally high standards of practice.

When you join SickKids, you become part of our community. We share a commitment and determination to fulfill our vision of Healthier Children. A Better World.

Don't miss out on the opportunity to work alongside the world's best in paediatric healthcare.

The Mital Lab at the Research Institute of The Hospital for Sick Children (SickKids) is seeking a highly motivated Bioinformatician.

The Mital Lab leads the SickKids Cardiac Precision Medicine Program and Biobank under the auspices of the Ted Rogers Centre for Heart Research. This entails a multidisciplinary team based within the Research Institute at SickKids focused on understanding the genomic basis of heart disease with the ultimate goal of translating genomic discoveries into improved diagnosis, risk stratification, and treatment strategies. Through the integration of genomics, multi-omics, functional studies, computational approaches, and clinical collaboration, the laboratory aims to advance precision medicine for children and families affected by cardiovascular disease.

The successful candidate will play a central role in the analysis, interpretation, and integration of whole genome sequencing and multi-omics datasets. Key responsibilities include the full spectrum of genomics analysis including quality control, data visualization, variant annotation and interpretation, application of statistical and bioinformatic algorithms and workflows, and working with publicly available datasets. Additionally, expertise in multi-omics data analysis and machine learning is an asset. This position is ideal for an individual with strong expertise in human genetics, bioinformatics, variant interpretation, and genomic databases who enjoys working independently while collaborating closely with other bioinformaticians, clinicians, scientists, trainees, and research staff.

Here's What You'll Get To Do

• Perform comprehensive analyses of genomic datasets generated through whole genome sequencing of patients and families with heart disease and controls.
• Develop, implement, and maintain scalable bioinformatics workflows for processing, quality control, alignment, variant calling, annotation, and interpretation of genomic data.
• Integrate multi-omics datasets to identify biological patterns, molecular mechanisms, disease signatures, and candidate therapeutic targets.
• Apply current ACMG/AMP variant interpretation guidelines and best practices for variant assessment to perform comprehensive interpretation and classification of genomic variants identified in sequencing datasets from patients and families with heart disease.
• Review and synthesize evidence from publicly available databases and literature sources (.e.g ClinVar, ClinGen, OMIM, gnomAD, PubMed, and related resources).
• Evaluate computational evidence for variant effects using in silico tools (e.g. REVEL, AlphaMissense, CADD, SpliceAI, and emerging AI-based methods).
• Apply statistical and machine learning approaches to identify biomarkers, predict disease outcomes, stratify patient populations, and generate novel research hypotheses.
• Collaborate with members of an interdisciplinary research team to support genomic discovery projects and translational research initiatives.
• Contribute to data summaries, visualizations, presentations, manuscripts, and grant applications.
• Stay current with advances in genomics, multi-omics, artificial intelligence, and variant interpretation standards.

Here's What You'll Need

• M.Sc. or Ph.D. (or equivalent experience) in Genetics, Genomics, Bioinformatics, Computational Biology, Biomedical Sciences, Computer Science, or a related field.
• Proficiency in programming or scripting languages such as Python, R, Bash, or equivalent.
• Demonstrated experience developing or applying bioinformatics workflows for genomic data processing and analysis in high-performance computing platforms.
• Demonstrated experience analyzing genome sequencing data, and performing variant interpretation and curation.
• Strong understanding of ACMG/AMP variant classification guidelines and supporting evidence frameworks.
• Extensive familiarity with databases and tools needed to perform genome variant interpretation and gene-disease evaluation.
• Ability to work independently, manage competing priorities, and drive projects forward with minimal supervision.
• Commitment to research excellence, collaboration, and scientific integrity.
• Experience integrating and interpreting primarily genome sequencing but also other omics datasets an asset.
• Familiarity with cardiovascular genetics or Mendelian disease genetics an asset.
• Experience with machine learning, artificial intelligence, predictive modeling, or advanced statistical approaches applied to biomedical data an asset.
• Familiarity with workflow management systems such as Nextflow or Snakemake an asset.
• Manuscript preparation or scientific publication experience an asset.
• A commitment to understanding and aiding in the pursuit of equity, diversity & inclusion.

Here's What You'll Love

• This position is eligible for employee benefits coverage including but not limited to; health, dental and life insurance. The full benefits package will be discussed at the time of offer.
• This position is eligible to enroll in the Healthcare of Ontario Pension Plan (HOOPP). You can learn more about HOOPP's plan features by reviewing The HOOPP Handbook.
• A focus on employee wellness with our new Staff Health and Well-being Strategy. Self-care helps us support others.
• A hospital that welcomes and focuses on Equity, Diversity, and Inclusion.
• The opportunity to make an impact. Regardless of your role or professional interest, you will be making a difference at SickKids and contributing to our vision of Healthier Children. A Better World.
• For more on why you'll love working at SickKids, visit our careers site.

Employment type: Temporary full time 1.00FTE 12 month contract

SickKids is committed to championing equity, diversity and inclusion in all that we do, fostering an intentionally inclusive and culturally safe environment that reflects the diversity of the patients, families and communities we serve. Learn more about workplace inclusion.

Every application is reviewed by a human recruiter and all hiring decisions are made by people. In some cases, AI-assisted tools are used to help review applications based on job-related qualifications.

All positions posted on the SickKids Hospital's Careers Site represent current vacancies, unless otherwise posted in the job description.