Aabida Saferali

A framework for designing splice-junction experiments in deep 3' single-cell RNA sequencing

The paper establishes a framework for designing splicing experiments in deep 3'-biased single-cell RNA sequencing by analyzing depth requirements and benchmarking against bulk RNA sequencing.

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

Improving splice site usage prediction with SPLAIRE

The paper evaluates splicing models, identifies performance gaps, and introduces a cell-type-specific model for improved splice site prediction in human airway epithelial cells.

Overlap between COPD genetic association results and transcriptional quantitative trait loci

This study identifies 38 COPD GWAS loci with evidence of sQTLs, showing that sQTL analysis in whole blood and lung tissue provides novel insights into COPD mechanisms.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.

Characterization of a Disease-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing

The paper identifies a genetic variant in NPNT associated with COPD risk and lung function through splicing analysis using long-read sequencing.

Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene

The paper identifies FBXO38 as a novel COPD susceptibility gene by analyzing genetically driven alternative splicing and finding a protective exon associated with COPD risk.