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Article

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

American journal of human genetics - 4 Dec 2025

Wang David, Gazzara Matthew R, Jewell San, Wales-McGrath Benjamin D, Yang Kevin, Brown Christopher D, Choi Peter S, Barash Yoseph

Abstract excerpt

Genome-wide association studies (GWASs) have identified thousands of putative disease-causing variants with unknown regulatory effects. Efforts to connect these variants with splicing quantitative trait loci (sQTLs) have provided functional insights, yet sQTLs reported by existing methods cannot explain many GWAS signals. We show that current sQTL modeling approaches can be improved by considering alternative...

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Identifiers

PMID: 41232530
DOI: 10.1016/j.ajhg.2025.10.012
PMCID: PMC12626415

Genes

MS4A3
YBX3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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