Bioinformatics / Theoretical Cytogenetics and Oncogenomics
The focus of my research at the University of Zurich is the analysis of structural variations in cancer genomes by computational genomics, including bioinformatics and systems biology methods. My work centers around our collection of genomic tumor data, assembled from copy number screening experiments in cancer. Specific projects deal with the development of computational methods for cancer genome data analysis, genomic aberration analysis in specific tumor entities as well as large scale exploration of imbalance patterns in malignancies.
An important aspect of my group's work is the curation of public cancer genome datasets. The Progenetix project is a reference database for (molecular-) cytogenetic aberration data in human malignancies. Currently, the Progenetix database contains results from more than 31000 genomic profiling experiments using chromosomal, array and sequencing based genome screening techniques. In 2012, my group published a resource aimed at collection, re-analysis and probe-level visualization of oncogenomic array data. This "arrayMap" resource can be accessed at arraymap.org.
Since 2014 I have been a member of the Global Alliance for Genomics and Health, where I am one of the leaders of the metadata task team inside the Data Working Group as well as as member of several workstreams. As part of the DWG, the metadata task team was concerned with the definition of modern, standardised data schemas facilitating unambiguous annotation and mining of attributes describing e.g. provenance as well as biological or biomedical attributes associated with physical or procedural objects, related to genomic data structures. Since December 2018, i am co-chair of the GA4GH "Discovery" workstream