Nadav Ahituv

The paper uses perturbation assays to study how regulatory elements guide neural differentiation over time, identifying sequence-driven activity and environmental effects on transcription.

The paper identifies nullomers and nullpeptides across species, showing they are under negative selection and could serve as DNA fingerprints or for phylogenetic analysis.

This study identifies AIS-associated genes and regulatory elements through RNA-seq and ChIP-seq in human and mouse tissues, revealing pathways involved in chondrogenesis and connective tissue maintenance.

This study evaluates how experimental design, orientation, and sequence context affect MPRA results, finding significant differences in regulatory activity measurements.

The paper maps chromatin accessibility in developing human brain and organoids using scATAC-seq, revealing cell type-specific regulatory elements and their role in neurodevelopment.

This study identifies ADGRG6 as a regulator of intervertebral disc homeostasis through STAT3 signaling, showing that inhibiting STAT3 reduces disc degeneration in a mouse model.

MPRAnalyze provides a statistical framework for analyzing MPRA data to estimate regulatory sequence effects and compare differential activity across conditions.

The paper maps genomic and epigenomic features of leptin-responsive hypothalamic neurons and identifies regulatory elements overlapping obesity-associated SNPs.

The paper performs a meta-analysis of MPRA datasets to predict regulatory activity and identifies cell-type specific features affecting accuracy.

The paper performs saturation mutagenesis on disease-associated regulatory elements to assess the functional effects of mutations, revealing variability in transcription factor binding site density and predictive power of conservation scores.

The paper characterizes regulatory dynamics during neural induction using genomic assays and computational tools, identifying key transcription factors and functional regulatory elements.

This paper introduces crisprQTL mapping to identify gene regulation by using CRISPR perturbations and single-cell RNA-seq in human cells, finding 128 cis-regulatory elements affecting nearby genes.

This study identifies pharmacogenetic variants associated with albuterol bronchodilator response in minority children with asthma using whole genome sequencing.

This study identifies antibiotic-induced changes in gene expression and regulation in HepG2 cells using RNA-seq and ChIP-seq.

This study shows CRISPRa can rescue Sim1 haploinsufficiency-induced obesity by targeting the promoter or enhancer, demonstrating tissue-specific upregulation of Sim1.

The paper compares chromosomal and episomal enhancer activity using a novel assay, finding significant differences in activity and predictability.

The paper identifies bat-specific enhancer regions in the HoxD locus that show differential activity in bat and mouse limbs, potentially contributing to bat wing development.