Florian Kraft

A relational architecture of the human genome

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

A Framework for NGN1-Induced Sensory Neuron Differentiation for Disease Modelling and Drug Screening

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.

Aberrant DNA methylation is co-regulated across the genome in leukemia and other types of cancer

This study identifies co-regulated DNA methylation patterns in leukemia and shows their presence in other cancer types, suggesting non-random, network-based epigenetic regulation.

Genolator: A Multimodal Large Language Model Fusing Natural Language, Genomic, and Structural Tokens for Protein Function Interpretation

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.

Direct RNA sequencing (RNA004) allows for improved transcriptome assessment and near real-time tracking of methylation for medical applications

This study evaluates improvements in direct RNA sequencing (DRS) using RNA004 chemistry and modified-base-calling models, showing enhanced throughput, accuracy, and detection of RNA modifications in clinical applications.

Mutational Constraint Analysis Workflow for Overlapping Short Open Reading Frames and Genomic Neighbours

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: a lightweight streamlit application for an interactive analysis of copy number variants

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

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

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

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

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