Falling prices. The initial Human Genome Project took 10 years and cost more than $3 billion US Dollars. The $1000 genome catch phrase was first used in 2001 and indicated that prices would need to fall significantly to allow for genome sequencing to be used for routine diagnostics. Currently, in 2014, the $1000 genome seems on the horizon. However, will we ever have a $1000 epilepsy genome? Continue reading
Tag Archives: Complete Genomics
How genome sequencing in intellectual disability breaks the 50% boundary
Exome failures. Trio exome sequencing has the huge potential to discover the genetic basis of neurodevelopmental disorders. However, the results are negative for the majority of patients. In a recent study published in Nature, genome sequencing was applied to exome-negative patients with intellectual disability, identifying mutations in coding regions that were previously missed. But are the authors correct in stating that they can explain more than 60% of cases in an unselected cohort? Continue reading
EuroEPINOMICS family studies go whole genome
The EuroEPINOMICS live ticker. During the last ten months, the focus of the EuroEPINOMICS consortium on Rare Epilepsy Syndromes (RES) has been the trio analysis in patients with epileptic encephalopathies. The RES subproject also aims at analysing the genetics of rare familial epilepsies. There have been ongoing discussions about the best way to get the analysis started. Last week, we finally “sealed the deal” for whole genome analysis in RES families. The EuroEPINOMICS RES consortium will collaborate with the CoGIE partner Luxembourg Centre for Systems Biomedicine (LCSB), the Institute of Systems Biology, Seattle USA (ISB) and Complete Genomics to analyse whole genome data of families with Rare Epilepsy Syndromes with an expected capacity of 100 genomes. But why exactly are we thinking about trading exomes for whole genomes? Continue reading
