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This Week in Science: Dec 5, 2014

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.

The Scan

Purnell Choppin Dies

Purnell Choppin, a virologist who led the Howard Hughes Medical Institute, has died at 91, according to the Washington Post.

Effectiveness May Decline, Data From Israel Suggests

The New York Times reports that new Israeli data suggests a decline in Pfizer-BioNTech SARS-CoV-2 vaccine effectiveness against Delta variant infection, though protection against severe disease remains high.

To See Future Risk

Slate looks into the use of polygenic risk scores in embryo screening.

PLOS Papers on Methicillin-Resistant Staphylococcus, Bone Marrow Smear Sequencing, More

In PLOS this week: genomic analysis of methicillin-resistant Staphylococcus pseudintermedius, archived bone marrow sequencing, and more.