Using GenoKey’s data mining technology, Erling Mellerup and a team of European researchers have found a cluster of 24 combinations of genotypes that are linked to a susceptibility to neuroblastoma, a rare childhood cancer. You can see more about the article here paper on neuroblastoma.
Genome-wide association studies generate huge quantities of genetic data, and it’s not always easy to find the critical linkages to disease amongst the volume of information. The researchers took data from a previous study of neuroblastoma, and analysed it to see if there were combinations of genetic changes that could be seen in patients that weren’t there in people without the disease. Of the 322 combinations found in patients only, a cluster of 24 combinations was found to be significantly associated with neuroblastoma. The results were published in Cancer Genetics.
Using fast data mining methods like those developed by GenoKey make it possible to look at combinations of changes as well as single changes. This allows researchers to extract more meaningful; information from amongst the ‘noise’ of large quantities of genetic data, and finds patterns of changes that could support personalised medicine in groups of patients, or even individuals.
Research of this type could potentially lead to tools that predict risk and indicate people who should be monitored more closely for signs of disease. The next step for the researchers is to replicate the findings in an independent neuroblastoma cohort, and to further test the methods used to combine genetic data in more data sets.