Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
Tatsiana Aneichyk, William T. J. Hendriks, Rachita Yadav, David S. Shin, Dadi Gao, Christine A. Vaine, Ryan L. Collins, Aloysius Domingo, Benjamin Currall, Alexei Stortchevoi, Trisha Multhaupt‐Buell, Ellen B. Penney, Lilian Cruz, Jyotsna Dhakal, Harrison Brand, , Michael E. Talkowski
This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.
Cell · Jan 1, 2018Peer-reviewedGenomics