POSITION TITLE : Postdoctoral Fellow - Genomic Informatics
DEPARTMENT : Pathology and Laboratory Medicine
EMPLOYMENT TYPE : Regular Full-Time
HOURS OF WORK : Monday to Friday, 9:00 a.m. to 5:00 p.m.
EMPLOYEE GROUP : Non-Union
REPORTS TO : Director, Advanced Molecular Diagnostics
POSITION OVERVIEW
The position will involve developing and implementation of an advanced informatics pipeline to analyze next generation sequencing (illumina) exome data; bioinformatic analyses and processing of genomics data for validation of a next-generation sequencing test; ability to interface software with various clinical, laboratory, and genetics databases; analyze exome data for discovery of novel genes; advance the techniques involved in interpreting variants of unknown significance; establishing a “clinical exome report”; and establishing the clinical validity and utility of exome-based testing procedures for the clinical diagnostics laboratory with a view to expanding the role for exome data in clinical genetics.
DESCRIPTION OF DUTIES
- To develop a clinical diagnostic exome report for clinicians ordering exome sequencing.
- Analyze and determine clinical validation performance parameters of the exome sequencing test.
- Conducts research in the use of exome sequencing for the discovery of novel genes.
- Disseminate findings at major national meetings and in published peer-reviewed journals.
QUALIFICATIONS
- Ph.D. in Human Genetics and Bioinformatics Experience with next-generation sequencing (NGS) technology
- In depth knowledge and experience in genomics informatics as well as extensive knowledge of the most up-to-date information technology and applications related to DNA sequencing Strong background in molecular biology, genetics, genomics, Next Generation Sequencing
- Experience with sequence assembly, alignment, genomic sequence analysis, functional genomics, and genotyping
- Experience with managing large datasets, database administration, and programming skills (e.g. SQL Server, Oracle, Sybase, MySQL, CORBA, PERL, Java, C, C++, web scripting)
- Expertise with the UNIX platform
- Experience with statistical analyses such as regression analysis, classification, cox regression, survival analysis, mixed model, PCA, clustering, power analysis, student’s T-Test, multiple comparison correction
Posting will be open until January 31, 2014. Please submit your cover letter and resume to mmoorhouse@mtsinai.on.ca. We thank all candidates for applying. Only those selected for an interview will be contacted.
Might be useful to also include the name of the Institute and the location.
Based on the email address, it's from the Mount Sinai Hospital in Toronto, Canada