Liliana Florea

This study shows chronic CaMKII activation drives skeletal muscle aging and sarcopenia, and partial inhibition in aged muscle improves function and shifts the transcriptome toward a youthful state.

SpliSync improves RNA long-read alignment precision using a genomic language model, enhancing splice site correction but with limited impact on transcript reconstruction.

This study shows that Cntnap2 deletion in mice disrupts vestibular signaling and spatial cognition, linking peripheral sensory dysfunction to ASD-related behaviors.

This study benchmarks foundation models for splice site and exon annotation, finding performance varies greatly depending on exon type and training data representation.

The paper introduces MntJULiP and Jutils for differential splicing analysis of RNA-seq data, incorporating covariates to identify age and sex-related splicing patterns in GTEx brain samples.

This study shows that 5-ethynyluridine (5EU) causes nuclear accumulation of TDP-43 and other RNA-binding proteins by altering RNA metabolism and splicing.

The paper identifies transposon exonization as a mechanism regulating interferon signaling by generating functional variants of immune genes, including a decoy receptor that inhibits interferon signaling.

The paper develops a deep learning model, eXAlu, to predict Alu exonization events in the human genome and estimates their prevalence to be 55-110K, significantly higher than in GENCODE.

The paper identifies multiple chromosome 21 genes that modulate Sonic hedgehog signaling, which is dysregulated in Down syndrome.

The paper introduces MntJULiP, a method for accurate quantification of splicing differences, revealing tissue differentiation splicing constituents using hundreds of GTEx samples.

This paper shows that excessive O-GlcNAcylation causes heart failure and sudden death in mice, while reducing it protects against cardiac stress.

SEVA identifies differential heterogeneity in gene isoform usage between cancer subtypes using RNA-seq data.

CLASS is a tool for accurate splice variant annotation from RNA-seq reads, outperforming existing methods in accuracy and detection of splicing events.

Lighter corrects sequencing errors efficiently by using Bloom filters instead of k-mer counting, achieving speed and memory efficiency with comparable accuracy.