Carlos F. Buen Abad Najar

Torino, a reference-free framework for isoform discovery, identifies RNA processing patterns linked to disease risk by analyzing read coverage variation across species and disease states.

LeafCutter2 identifies and quantifies unproductive splicing events from RNA-seq data, revealing their role in gene regulation and disease, including Alzheimer's.

The paper estimates the impact of alternative splicing coupled with nonsense-mediated decay on gene expression levels using population-scale genomic data and perturbation experiments.

The paper introduces Psix, a method to identify cell-state associated alternative splicing events using scRNA-seq data, revealing co-regulated splicing modules and their regulatory networks.

The paper shows that apparent binary splicing in single cells is caused by technical biases, not biological reality, and proposes methods to correct for these biases.