Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information
Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía, Jana Vandrovcová, Regina Hertfelder Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado‐Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, Alastair John Noyce, Aude Nicolas, Mark Cookson, , Elisabet Mondragón Rezola
The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.
Nature Communications · Feb 25, 2020Peer-reviewedBioinformatics