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
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.
- 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 email@example.com. We thank all candidates for applying. Only those selected for an interview will be contacted.