Yasushi Okazaki

The paper maps RNA-DNA interactions in 16 human cell types, showing cell-type-specific and dynamic networks that correlate with gene regulation and disease traits.

The paper establishes an HPV18-associated cervical adenocarcinoma model using iRCs and integrates spatial transcriptomics with single-cell multi-omics to identify Gland_A as a key component with specific molecular features.

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

This study maps transcription start sites and active enhancers in Galleria mellonella larvae during fungal infection and treatment using LQ-ssCAGE.

This study finds that BCR repertoire diversity, not TCR diversity, correlates with favorable outcomes in COVID-19 patients.

The paper constructs a single-cell atlas of transcribed cis-regulatory elements in the human genome, revealing gene regulation patterns and trait-gene relationships across cell populations.

This study validates variants of uncertain significance in ECHS1 using functional assays and multi-omics analysis, identifying new pathogenic variants and cases of mitochondrial disease.

The paper performs knockdown of 200 lncRNAs in human iPS cells, identifies 36 with growth inhibition, and finds molecular phenotypes in 29.3% of cases, with higher agreement in molecular than cell growth phenotypes across cell types.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

The paper identifies cis-interacting lncRNAs and their targets using RNA-chromatin and Hi-C data across 18 human cell types.

This paper describes the creation of the first non-human primate model of familial Alzheimer's disease using genome editing to introduce a PSEN1 mutation associated with early-onset AD.

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.