My work is focused on the design, development and implementation of
work-flows and software tools to enhance the research of complex diseases.
Over the years, I developed software covering the setup and analysis of a
very diverse set of genotyping technologies, ranging from STR analysis and
Sanger sequencing to next generation sequencing. During the analysis of
some of first complete genomes, I developed software for comparing,
annotating, filtering and validating complete genome data (Genomecomb).
This is now also used to integrate the in-house analysis of gene panel and
exome sequencing using state of the art publicly available tools and local
enhancements. We are further exploring new ways to extract meaning from
the variants. I am especially interested in picking up variants that are
often missed because they are in as yet unkown functional regions by e.g.
the discovery of new potential targets. Our large scale reanalysis of
public sequencing data discovered a large number of novel miRNAs, which
will be used to annotate variants. We will also further look into ways to
combine genomic data with downstream transcriptome, proteome and
phenotypic information in order to gain more insight into the disease