Marcel E. Dinger

This study shows that combining FACT and BET inhibition disrupts oncogenic transcription and extends survival in Diffuse Midline Glioma models.

The paper identifies over 650,000 i-motif structures in human genomic DNA using immunoprecipitation and sequencing, showing their widespread distribution and association with highly expressed genes and G0/G1 phase upregulated genes.

This study uses deep learning to compare human and mouse gene expression across 777K bulk RNA-seq samples, identifying genes with differing functional associations between species.

The paper develops GeneRAIN models trained on bulk RNA-seq data to predict gene attributes, showing they capture biological information beyond gene expression and outperform existing models.

mity detects low heteroplasmy mitochondrial variants in whole genome sequencing data, improving diagnostic rates for mitochondrial diseases.

The paper compares DNA methylation dynamics in medaka and zebrafish embryos, showing conserved remodelling patterns without global erasure, and identifies conserved non-canonical methylation reprogramming.

ClinSV detects structural and copy number variants from whole genome sequencing data with high sensitivity and low false positive rates, outperforming clinical microarrays in identifying reportable variants.

The paper identifies TNFAIP3 variants in humans, Denisovans, and mice that modulate A20 phosphorylation, revealing a genetic mechanism for balancing immunity and microbial tolerance.

The paper introduces the Medical Genome Reference Bank, a resource of whole genome sequences and phenotypes from 2,570 healthy elderly Australians, showing fewer disease-associated variants and age-related somatic changes linked to grip strength.

The paper introduces the Medical Genome Reference Bank (MGRB), a whole-genome dataset of 4,000 healthy elderly individuals, to serve as a reference for genetic variant analysis and healthy aging research.

Seave is a web platform for storing and querying human genomic variation, enabling variant filtering, annotation, and analysis across different data types and scales.

The paper identifies that nearly all noncoding exons undergo alternative splicing, generating a vast repertoire of regulatory RNAs and highlighting conserved splicing patterns across species.

This study investigates gene expression dynamics in mouse embryonic stem cells at high temporal resolution, revealing new insights into transcriptional regulation and noncoding RNA roles.

The paper develops a machine-learning algorithm to annotate human splicing branchpoints from genome sequence, identifying 85% of annotated introns and confirming deleterious mutations.