Job Details

Sinai Health is a leading academic health science centre with a provincial, national and international reputation for discovering and delivering life-changing care. Since 2015, we have provided excellent and compassionate care in hospital, community and home. Comprised of Mount Sinai Hospital, Bridgepoint Active Healthcare, the Lunenfeld-Tanenbaum Research Institute and our system partner Circle of Care, we translate scientific breakthroughs, push boundaries for health solutions, and educates future clinical and scientific leaders.

Sinai Health is fully committed to a culture of belonging and an inclusive environment that attracts and retains a diverse workforce, at all levels of the organization, that reflects the communities we serve. We welcome applications from racialized persons, women, Indigenous persons, persons with disabilities, 2SLGBTQ+ persons, and those from diverse backgrounds and experiences. If you require accommodation (including, but not limited to, an accessible interview site, alternate format documents, ASL Interpreter, or Assistive Technology) during the recruitment and selection process, please let us know through the Accommodation Phone Line at 416-586-4800, ext. 7050, or email HiringProcessAccommodation.msh@sinaihealth.ca .

At Sinai Health, we care, create possibilities and offer hope. We are looking for an experienced Bioinformatician in our Diagnostic Medical Genetics department.

Reporting to the Senior Manager of Diagnostic Medical Genetics (DMG), the Bioinformatician is an integral member of a multi-disciplinary clinical and academic team specializing in both prenatal and predictive molecular diagnostics. This role will be shared between the cytogenetics and molecular diagnostics labs within the Division of Diagnostic Medical Genetics and is familiar with genomic microarray technologies and cancer diagnostics, and is proficient in data analysis, data mining, interpretation and the preparation of statistical reports.

Duties and Responsibilities:

Sequencing Analysis Pipeline

• Development and maintenance of bioinformatics pipelines for analyzing microarray and next-generation sequencing (germline/somatic variant and fusion calling) data
• Manage the storage of next-generation sequencing data
• Utilize external database to assist in the annotation and assessment of sequencing data
• Evaluate and implement novel bioinformatics tools to improve standard of care for genetic testing

Software Development

• Develop software solutions to aid diagnostic staff and optimize laboratory processes
• Manage software upgrades and ensure compliance to regulatory standards
• Assist  in troubleshooting of vendor hardware and software issues related to sequencing
• Assist in development, maintenance, and troubleshooting of Laboratory Information Management System (LIMS)
• Assist in the development, maintenance and troubleshooting of the integration of LIMS and the Laboratory Information System (LIS)
• Assist in the creation and maintenance of standard of procedure documents for analysis software

Quality Assurance

• Evaluate key performance metrics by querying and analyzing data from LIMS and LIS to identify bottlenecks and/or opportunities for improvement in current practice
• Provide operational and strategic reports and participate in service planning to track performance metrics on a regular basis
• Assist in the implementation of quality improvement initiatives through data analysis and software development

Additional duties

• Assist in the training of laboratory staff in the use of LIMS
• Attend regular staff meetings, team huddles and discipline meetings where appropriate
• Collaborate with clinical staff, clinical directors and laboratory staff on multi-disciplinary projects
• Consult  with laboratory staff to identify project and user requirements
• Respects client confidence and protects operations by keeping information confidential
• Retain technical knowledge by attending educational workshops; reviewing publications; establishing personal networks; participating in technical societies on a continual basis
• Contributions to the writing of publications

• Bachelors/Masters Degree in Bioinformatics/Computer Science/Computational Biology or related field
• Experience in academic/industrial environment for data analysis of next-generation sequencing data for germline variant calling, somatic variant calling, and/or fusion calling required
• Minimum 1 year experience in software development in multiple programming languages, such as Python/Java, and derivatives for biological data analysis
• Experience with Linux/UNIX based systems and developing shell scripts/command-line interface for data processing
• Basic understanding of databases (Oracle/MySQL), fundamental database design principles and SQL
• Strong interpersonal communication skills, both written and verbal
• Proven organizational skills and ability to manage multiple priorities in a busy work environment
• Experience in downloading/learning/applying software and database resources for custom analysis and building workflows
• Experience with Microsoft Excel, Microsoft Access, and VBA
• Experience with LIS used in a clinical laboratory settings
• Familiarity with various biomedical databases
• Basic understanding of statistics