What do we do?
The Computational Oncogenomics Group works on the computational analysis of structural genome variations in cancer. Our work centres around our arrayMap and Progenetix resources of curated molecular-cytogenetic and sequencing data. Specific projects explore computational methods, genomics of selected tumour entities as well as genomic variant patterns across malignancies. As members of the Global Alliance for Genomics and Health, the group is developing standards in biocuration and data sharing for genomic variants and phenotypic data. Other projects are related to genome data epistemology, e.g. geographic and diagnostic sampling biases.
A highlight in 2017 was the publication of a large collaborative reference study about genomics in rare, aggressive brain tumours in children (MacKay et al., Cancer cell 2017), where our group was involved both in the original conception of the study, as well as in the assembly and evaluation of study data. As participants in human data studies of the ELIXIR network, and as developers of Global Alliance for Genomics and Health (GA4GH) standards, we launched the "Beacon+" resource, which represents a forward-looking implementation of the GA4GH Beacon protocol, and at the same time demonstrates the implementation of GA4GH protocol specifications in a real-world scenario.
Main publication 2017
- Mackay et al. Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Cancer Cell 2017; 32(4):520-537