Hiroyuki Aburatani

This paper introduces a cuffed guide RNA (cgRNA) that enables miRNA activity-dependent genome editing in human and mouse cells.

PRCGAP provides a haplotype-resolved analysis of cancer genomes, detecting variants missed by standard references and revealing new insights into structural variants and fusion events in leukemia.

This paper introduces SCALE-CLIP, a method to generate comparable RBP binding maps, and defines a positional and combinatorial regulatory code for alternative splicing.

This study identifies 16 AML subgroups based on chromatin accessibility profiles using ATAC-seq in 1,563 cases, revealing epigenetic heterogeneity and its clinical and therapeutic implications.

The paper maps lineage trajectories and gene regulatory networks of cardiopharyngeal neural crest cells in mice, identifying a Hox-Meis-regulated transition associated with cardiac cushion development.

This paper introduces CloneSelect, a multi-kingdom genetic barcoding system that enables precise isolation of target clones using CRISPR base editing to trigger reporter gene expression.

The paper uses multimodal analysis to reveal cardiac neural crest lineage diversity and gene regulatory networks involved in their differentiation.

This paper identifies new genetic loci for atrial fibrillation through a trans-ancestry meta-analysis and develops a polygenic risk score linked to cardioembolic risk.

The paper develops a deep learning framework to prioritize novel drug targets and repositionable compounds for Alzheimer's disease using protein-protein interaction networks.

This study shows that Kdm7a regulates posterior Hox gene expression in mouse embryos by demethylating H3K9me2, leading to anterior-posterior developmental defects.

The paper shows that KDM7A and UTX demethylate repressive histone marks to enable NF-κB-dependent inflammatory gene activation in endothelial cells.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

This study identifies germline genetic variants influencing somatic mutation patterns in 2,642 cancer genomes across 39 cancer types.

This study characterizes mitochondrial genomes in 2,700 cancer patients across 37 types using whole-genome sequencing and RNA-seq, revealing mutational patterns, truncating mutations, and nuclear transfer of mitochondrial DNA.

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The paper characterizes the transcriptomic and epigenomic landscape of nine human endothelial cell types, identifying EC-specific enhancers and marker genes, and highlights the role of HOX genes in vascular development and disease.

This study identifies novel genetic loci for coronary artery disease in Japanese and transethnic populations and develops a polygenic risk score that outperforms population-specific scores.