BACKGROUND

Rare variants are being investigated as the genetic basis of inheritable diseases to account for the "missing heritability" problem encountered by common variant studies. However, owing to their rarity, it is hard to achieve statistically significant association at the single variant or single gene level. Testing sets of genes (e.g. pathways, protein complexes) instead of individual genes overcomes this problem, by pooling sparse signals into a more consistent one. We have been initially successful in the application of this type of analysis to rare copy number variants (Pinto et al Nature 2010, see link) and we are now interested in systematically adopting this strategy for several medium and large-scale projects. We are also interested in assessing the role played by specific parameters, such as size or type of variants, evaluating results using different statistical tests and exploring overlap with previously known disease genes.

RESPONSIBILITIES

We are seeking a highly motivated bioinformatics data analyst focusing on gene-set and pathway analysis for genetic rare variant data. The typical analysis will involve scripting (preferred language: R) to implement statistical tests and filters, followed by visualization (using Cytoscape or other software tools) and critical discussion of results. The successful candidate will be directly supervised by the informatics facility manager and will interact with graduate students, post-doctoral fellows or independent investigators.

REQUIREMENTS

The applicant will have a MSc (or PhD) in statistics, computer science, physics, mathematics, computational biology, bioinformatics, biology, genetics, biochemistry or medical sciences. Candidates with a formal/quantitative background should be motivated in learning essential genetics. Candidates with a biological background should be motivated in strengthening their programming skills and understanding of statistical models.

Knowledge of at least one scripting language (e.g. R, Python, Perl, Matlab) is strictly required; proficiency in R programming is highly desirable. Evidence of excellent communication and teamwork skills is essential. A solid understanding of essential statistics (exploratory data analysis, inferential statistics, clustering) is also required.

PREFERENCES

Candidates with previous experience in bioinformatics data analysis in areas such as transcriptomics, proteomics, quantitative genetics, network or pathways or metabolomics will be preferred.

LOCALE

The work will be conducted at the The Centre for Applied Genomics (TCAG) / The Hospital for Sick Children (SickKids), Toronto, one of the leading genomics centres in the world. Toronto is a major international centre of genomics, proteomics and systems biology research; there will ample opportunity for professional development through research seminars, workshops and research in progress meetings.

COMPENSATION

Salary is commensurate with education and qualifications. Candidates are encouraged to express a target salary range.

TERMS
2 year contract, extendable in presence of funding.

HOW TO APPLY

Please send your CV and the names of 3 references to 'daniele.merico[at]sickkids.ca'. Please use the following subject: 'Pathway Analyst Job: application'.

DEADLINE

Open until position is filled.

LINKS

http://www.tcag.ca/index.html
http://www.sickkids.ca/Research/index.html
http://www.ncbi.nlm.nih.gov/pubmed/20531469