The meeting of the 1000 exomes

1000 exomes. The EuroEPINOMICS consortium will host its first data analysis meeting at the Luxembourg Centre for System Biomedicine from July 5th to July 7th, 2012, to discuss the results from the high-throughput genomic platforms in the CoGIE, RES, EpiGENet and Epiglia consortia. We will present the first results of the four EuroEPINOMICS programs generated by high-throughput genomic technologies and discuss the overall direction of genetic analysis for the next years, which should soon encompass the proverbial 1000 exomes. In preparation, let’s revisit high-throughput epilepsy genomics.

EuroEPINOMICS reinvents itself. EuroEPINOMICS is a program within the Eurocores scheme of the European Science Foundation. In contrast to many other large-scale consortia in the field, EuroEPINOMICS does not have centralized money, but the coordinated projects are funded by the national funding agencies of the participating countries. The entire consortium is then split again into four collaborative research projects (CRP). Sounds complicated? It sure is, but this gives the entire consortium a flexibility, which is particularly handy when the next cheaper, more reliable technology is just around the corner. When we initially drafted the application for EuroEPINOMICS-RES, we were convinced that prior to exome sequencing, a whole panel of candidate genes would have to be excluded. However, genetic technology has pretty much turned this plan upside down. As discussed in a recent study, it is actually way more efficient to conduct exome sequencing directly or after exclusion of one or two candidate genes. In addition, trio exome sequencing, now one of the main projects in collaboration with the Sanger Centre, was not even on the map when the idea of a Eurocores project was conceived. EuroEPINOMICS also has the unique potential to include outside groups as partners or contributors. In fact, more than 50% of groups contributing to EuroEPINOMICS-RES are not members of the initially funded groups. This is a good example on how flexible research networks can evolve and adapt.

Share your data. We have recently pointed out that exome sequencing might not really deserve the designation “big data research”. However, there is more information contained in exome data than this one base-pair mutation that we hope to find for a monogenic disorder. As studies in autism research have shown, even though de novo mutations are abound, large numbers are required to find a single candidate gene twice. EuroEPINOMICS with its unique combination of trio and family studies has many interesting possibilities for interactions and mutual contributions. A prerequisite is a powerful and liberal approach to data sharing and even centralised data storage. With FP7 and Horizon 2020 coming up soon, EuroEPINOMICS with the possibility for shared network activities might just give us the necessary impetus to create shared data repositories and maintain and expand the already existing phenotype databases such as BENCH-RES.

The Luxembourg Center for Systems Biomedicine is the white building behind the left-most chimney of the former steel plant, which is the new campus of the University of Luxembourg. To the left is the former Dexia bank where our meeting will take place. The furnaces of Belval Hauts-Fourneaux are heritage-protected and add to the industrial-culture charme of the campus.

Our host, the LCSB in Esch-Belval. The Luxembourg Centre for Systems Biomedicine will host this years “meeting of the 1000 exomes”. Interpreting rather than generating genomic data is becoming the main challenge of the future and connecting genomic data with other data-rich fields of biomedical research including gene expression, imaging or phenomics using systems approaches will be one of the main issues in the future. Only five years ago, it would have been virtually inconceivable that genetic data generation and interpretation could ever be two different fields. Nowadays, it starts with the exome and then the journey only begins. Belval with an interesting mix of industrial-age furnaces and modern university buildings might just be the right place to re-think how we tackle the challenges of the future.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter