Ingo Kurth

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

This paper develops a standardized framework for generating sensory neurons from human iPSCs using NGN1, improving differentiation efficiency and functional maturation for disease modeling and drug screening.

The paper identifies OSMR and SST as molecular markers for human dermal sleeping nociceptors, providing new therapeutic targets for neuropathic pain.

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.

The paper uses single-cell RNA sequencing to systematically phenotype mouse genetic models, identifying molecular and cellular changes across multiple mutants and wildtypes.

This paper introduces Swarm Learning, a decentralized machine learning approach for disease classification using transcriptomic data, demonstrating its effectiveness in developing classifiers for COVID-19, tuberculosis, and leukemias while preserving privacy.

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

The paper identifies a homozygous NMNAT2 mutation causing polyneuropathy and erythromelalgia in two sisters, linking it to axon degeneration and supporting the role of the Wallerian pathway in human disease.

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