Giovanni Quinones-Valdez

The paper identifies allele-specific splicing events in brain tissues linked to Alzheimer's disease risk and functional genetic variation.

The paper identifies allele-specific alternative polyadenylation events in Alzheimer's disease brains and links them to genetic risk loci for neurodevelopmental and neurodegenerative disorders.

The paper uses long-read RNA-seq and isoLASER to distinguish cis- and trans-directed splicing events in human and mouse data, identifying thousands of cis-regulated events in disease-relevant genes.

L-GIREMI detects RNA editing sites in long-read RNA-seq with high accuracy by addressing sequencing errors and biases.

This study identifies hnRNPM as a suppressor of cryptic splicing and shows its role in preventing dsRNA-mediated interferon responses and tumor immunity.

scAllele detects and analyzes nucleotide variants and their allelic linkage to splicing in scRNA-seq data, outperforming existing tools and enabling allele-specific splicing analysis.

The paper introduces BEAPR, a computational method to detect allele-specific binding of RNA-binding proteins, showing it outperforms existing methods and identifies disease-relevant variants.