Job Details Position Summary
- Lab tracking: Develop and support the open-source laboratory information management system MISO LIMS and associated applications
- Pipeline/Data management: Automate and streamline data analysis, tracking, and workflow management using workflow systems like Cromwell
- Data release: Archive data for long-term storage and release data to collaborators and public archives
- Reporting: Maintain a suite of specialized reports for quality control, forecasting, and lab operations
- Analysis: Perform project-specific analysis for collaborators, including alignment, de novo assembly, variant detection, quantification of tumour heterogeneity and purity, RNAseq analysis, variant significance prediction, and structural variant calling and any other specific project requirements
- Interpretation: Analyze and interpret genomic data using accredited pipelines and processes and draft reports for clinical cases
Position Responsibilities
- Interrogating tumour genomes for clinically reportable and actionable variation that can be used in clinical trials
- Preparing clinical reports for sign-off by Canadian College of Medical Geneticist (CCMG) board-certified Geneticists and presenting findings at molecular tumour boards
- Researching and developing cutting-edge techniques and software for future incorporation into the clinical bioinformatics pipeline
- Developing tools/software to evaluate performance and statistical validation of clinical sequencing data
- Investigating clinical applications of newer laboratory and computational techniques (fragmentomics, mutational signatures, immune inference)
- Writing detailed documents describing results of investigations, assay validations, proficiency testing, analysis and laboratory protocols, and standard operating procedures for clinical assays and accreditation
Qualifications
- A master's degree in related discipline, with demonstrated experience in a scientific discipline, preferably in bioinformatics, oncology, genetics, molecular biology, or recognized equivalent
- Considerable practical and related work experience
- Demonstrated experience interpreting data generated from best-practice pipelines for analyzing NGS data, such as variant calling pipelines for genome and transcriptome sequencing
- Knowledge of NGS data processing tools (samtools, GATK, IGV, etc)
- Proficiency working with large-scale datasets in a Unix environment
- Some familiarity with a scripting and/or statistical analysis language (Python, R)
- Excellent written communication and interpersonal skills
Ontario Institute for Cancer Research
