Pushing the button for the next exome sequencing round

Galvanize. Last week, the EuroEPINOMICS RES working groups made the final decisions for the selection of trios for exome sequencing at the Sanger Centre, funded jointly by the Sanger Programme on paroxysmal neurological disorders and the EuroEpinomics RES fund. We pushed the button for 102 patient-parent trios to be sequenced. And for some reason, I caught myself humming “Galvanize“, the 2005 big beat hymn by the Chemical Brothers. Continue reading

The years of our fathers: paternal age and the rate of de novo mutations

Aging fathers. An increase in risk of aneuploidies, i.e. chromosomal aberrations such as Trisomy 21, is well established with maternal age.  Whether the paternal age also increases the risk for disorders in the offspring had long been disputed. However, a connection between paternal age and autism has been found in recent years. Now a recent study in Nature finds a surprisingly strong correlation on the genetic level… Continue reading

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. Continue reading