Intron retention induced by microsatellite expansions as a disease biomarker.

Microsatellite expansions often occur in non-coding regions of the genome. In this study, we test their effect on host transcript RNA processing. Overall design: RNA-seq on affected tissues and peripheral blood from control and affected patients.

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Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS