Noam Shomron

This study uses RNA-seq to analyze the transcriptomic effects of butyrate on human lymphoblastoid cell lines, identifying dysregulated genes in multiple disease-related pathways.

This study compares Illumina and Ultima-Genomics platforms for plasma cell-free small RNA profiling in pancreatic cancer, finding both produce biologically relevant results with platform-specific differences.

This study identifies conserved transcriptomic signatures in GNB1 encephalopathy across human and mouse models, linking GNB1 mutations to developmental, epileptic, and neuronal dysfunction.

This paper introduces purNPE, a Bayesian deep learning framework for estimating tumor fraction in cell-free DNA without labeled cancer samples, achieving comparable performance to existing methods.

The paper shows that per-base quality scores in cfDNA whole-genome sequencing can classify cancer samples from controls with high accuracy using unsupervised analysis.

The paper identifies LY6S, a new human interferon-inducible gene associated with inflammation and viral resistance, and describes its expression and functional effects.

The paper shows that TWIST1 methylation by SETD6 suppresses LINC-PINT expression, reducing EMT in GBM cells.

The paper identifies six variants in four genes associated with hearing loss in four South Indian families, highlighting genetic and phenotypic heterogeneity.

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.