Matthias Begemann

The paper systematically perturbs the human genome to reveal a relational network of genomic dependencies, uncovering 'relons' that reflect functional and evolutionary constraints.

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Genolator is a multimodal large language model that combines genomic and structural data with natural language to interpret protein function, outperforming existing models in accuracy.

This paper predicts the pathogenicity of missense variants using graph embeddings of protein structures generated by ESMFold and XGBoost.

The paper analyzes mutational constraint in short open reading frames (sORFs) and their genomic neighbors using the gnomAD 4.0 dataset, identifying a subset of highly constrained sORFs similar to canonical genes.

CNVizard is a lightweight Streamlit app for interactive CNV analysis, visualization, and annotation, compatible with CNVkit and AnnotSV.

This study identifies DNA methylation changes during long-term cell culture that resemble epigenetic drift, linked to chromatin conformation changes.

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.

The paper introduces HINT-ATAC, a method for identifying transcription factor binding sites in ATAC-seq data by addressing protocol artifacts and using probabilistic models.

This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.