A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease

Current methods for detecting splicing quantitative trait loci (sQTLs) miss many disease-associated genetic variants. MAJIQTL introduces improved statistical modeling and comprehensive splicing representation, discovering significantly more functionally relevant sQTLs that explain neurodegenerative disease GWAS signals, including identifying the role of rs528823 in Alzheimer disease through MS4A3 splicing regulation.