Lindsay M. Payer

TL;DR: The many ways human retrotransposons contribute to genome function, their dysregulation in diseases including cancer and how they affect genetic disease are reviewed.

TL;DR: This study cataloged 809 polymorphic Alu elements mapping to 1,159 loci implicated in disease risk by genome-wide association study (GWAS) and found that Alu insertion variants occur disproportionately at GWAS loci (P = 0.013).

TL;DR: This work presents Software for Quantifying Interspersed Repeat Expression (SQuIRE), the first RNA-seq analysis pipeline that provides a quantitative and locus-specific picture of TE expression, and identifies differences in TE transcription patterns relating to transcript type, gene expression and RNA splicing that would be lost with other approaches using subfamily-level analyses.

TL;DR: It is found that nontransformed cells undergo a TP53- dependent growth arrest and activate interferon signaling in response to LINE-1, revealing a retrotransposition–replication conflict that may be an important determinant of cancer growth.

TL;DR: Altered splicing efficiency is a common functional consequence of Alu polymorphisms including at least one instance where the variant is implicated in disease risk, which broadens the understanding of splicing regulatory sequences around exons.