Article

A Deep Dive into Statistical Modeling of RNA Splicing QTLs Reveals New Variants that Explain Neurodegenerative Disease

2024-09-03

Abstract excerpt

Genome-wide association studies (GWAS) 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 current sQTL modeling approaches can be improved by considering alternative splicing r...

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Literature Corpus work: 03c4506f-6bd8-5a0e-bf1f-565810f530cc
DOI: 10.1101/2024.09.01.610696

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