Former PhD Student abstract: Isaac Subirana, PhD

Statistical techniques to assess association of novel genetic variants and complex diseases CNVassoc R package

When assessing association of genetic variants measured with uncertainty and complex diseases it is important to use appropriate statistical techniques. On the contrary, it can lead to underpowered and inaccurate results. The main topic of my PhD consisted on developing new and more powerful tools to deal with CNV as well as imputed SNPs.

In 2003 I was graduated in Statistics by the University of Barcelona (UB). In 2005, I got my master’s degree in Science and Statistical Techniques by the Universitat Politècnica de Catalunya (UPC). Finally, in 2014 I finished my PhD at the Statistics Department UB.

Since 2003 I work as statistical advisor on epidemiological studies in the REGICOR group at IMM Research Institute. In my daily work at IMIM I have had the opportunity to apply several techniques learnt during my university education to real data studies, such as follow-up cohorts, clinical trials or population genetic studies. One example is MIGen study which contained thousands of genetic variants that I used for my PhD.


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