|Street / P.O. Box||Geert Grooteplein 10, 855|
|Zip code||6525 GA|
|Phone number(s)||+31 (0)24 3619639|
|Fax||+31 (0)24 3668752|
"I started as a post-doc in Genomic Disorders group in September 2007, since then I'm involved in two workpackages of the European FP6 consortium AnEUploidy. One is dealing with understanding HSA21 in more detail, basically by creating highest reolution genotype-phenotype maps of partial HSA21 aberrations. One aim of the other workpackage is to intentify disease causing CNVs in clinically defined syndromes for which the genetic cause is still unknown. Since November 2008 I'm involved in establishing next (2nd) generation sequencing technologies. For now we focused on using sequence enrichment strategies to find disease genes, either by focusing on genomic intervals or the whole human exome. For this we are currently using the 454 and SOLiD sequencers. It's fascinating to see that we now have possibilities, that one even hasn't dreamed of, a few years ago."