My work is focused on the design, development, implementation and support of work-flows and software tools to enhance the research of complex diseases. Over the years, I developed software covering management, 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 early complete genomes, I made software for comparing, annotating, filtering and validating complete genome data (Genomecomb). This is developed further 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 sequencing data by integrating new analyses and technologies such as nanopore sequencing.
I am also responsible for the (further) development and support of the in-house LIMS system managing the data-flow in the center from sample management to experimental results, and provide bioinformatics expertise, advice and support to the center.