Article
Contribution of retrotransposition to developmental disorders.
Nature communications - 11 Oct 2019
Gardner Eugene J, Prigmore Elena, Gallone Giuseppe, Danecek Petr, Samocha Kaitlin E, Handsaker Juliet, Gerety Sebastian S, Ironfield Holly, Short Patrick J, Sifrim Alejandro, Singh Tarjinder, Chandler Kate E, Clement Emma, Lachlan Katherine L, Prescott Katrina, Rosser Elisabeth, FitzPatrick David R, Firth Helen V, Hurles Matthew E
Abstract excerpt
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of RT in severe developmental disorders (DD) has not yet been explored. Here we identify RT-derived events in 9738 exome sequenced trios with DD-affected probands. We ascertain 9 de novo MEs,...
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