In this week's Science, Brown University's John Sedivy and colleagues present an overview of retrotransposons, mobile DNA elements involved genetic instability and evolution, highlighting their ubiquity in the human genome and how aging and disease may contribute to their activation in somatic tissue. In their Perspectives piece, the researchers note that many questions remain about somatic retrotransposons and point to the need for additional research into ways to combat the DNA damage they can cause and the therapeutic potential in doing so.
Meanwhile, in Science Translational Medicine, a team led by Children's Mercy–Kansas City researchers publishes a study showing that whole-genome sequencing (WGS) and whole-exome sequencing (WES) can reliably identify intellectual disability and autism in children who were previously undiagnosed by conventional tests. The researchers sequenced the genomes and exomes of 119 children with neurodevelopmental disorders and were able to diagnose specific diseases in 53 of them. They further calculated that the total cost for standard tests was more than $19,000, while WGS and WES cost no more than $7,640, making a case for the cost-effectiveness of such screening. GenomeWeb has more on this study here.