Genome-wide tests are nowadays pervasive in medicine and some of them have become routine (e.g. array CGH) or will soon become (exome or whole genome). On the one hand these genome-wide tests provide an unprecedented opportunity for improving the quality and yield of diagnosis, treatment prescription and research. For example, in rare disease diagnostics, exome sequencing increases resolution of cases dramatically from ~5% five-fold to 25%. On the other hand they demand hospitals to seek up-to-date, certified and reliable (bio)informatics solutions to store, manage and analyse such a huge avalanche of data. This project arises from specific needs of the Centers for Medical Genetics of the VUB, ULB and UCL for 1) a reliable storage and easy access to clinical and phenotypic data as well as massive amounts of high- throughput genomic data, 2) extracting more information from genetic tests in an automated and validated manner, and 3) deploying the extracted knowledge in clinical routine decisions. These needs are made more urgent by the imminent availability of a joint VUB/ULB Next-Generation Sequencing platform, and by the presumably upcoming reimbursement of genomic tests by the Belgian National Health Service. Those technologies produce masses of genomic data waiting to be stored, organised, analysed and valorised.
The project is funded by Innoviris, 2014-2016.