Harm-Jan Westra graduated cum laude

On 17th September, Harm-Jan Westra was awarded his PhD degree cum laude after his PhD defence. His thesis was entitled "Interpreting disease genetics using functional genomics" and the full text is now available here or a printed copy can be requested from the department. Email

His main conclusions in this thesis were:

- Trait-associated SNPs are enriched for local (cis-) eQTL and distant (trans-) eQTL effects.
- Cis- and especially trans-eQTLs can provide valuable insight into the downstream effects of trait-associated SNPs.
- Multiple, independent, trait-associated SNPs can affect the same downstream (trans-eQTL) genes, which can identify important ‘driver’ genes
- Trans-eQTL effects can describe the hallmark processes of disease, even when the eQTL effect has been detected while studying only healthy individuals.
- eQTL effects are not limited to protein-coding genes, but can also be detected for non-coding genes. They can also influence the poly-A tail of transcripts.
- eQTL effects can be cell-type-specific. This cell-type specificity can be detected in gene expression data obtained from whole tissues, which consist of many different cell types.
- The power to detect eQTLs can be improved by meta-analysis and by correcting gene expression data for non-genetic factors and sample mix-ups.

In January 2015, he was awarded an NWO Rubicon grant for his postdoc work in Boston.