Jochen Weile

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

This paper uses GPT-4 to generate lay summaries of cancer research papers, making complex content accessible to non-experts with high readability and accuracy.

The paper measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.

This study functionally tests STK11 missense variants in mammalian cells, identifying pathogenic variants and providing insights for clinical interpretation.

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

The paper evaluates computational predictors for rare variant burden tests and identifies two top predictors that enhance gene-trait association discovery in the UK Biobank.

Pacybara improves the accuracy of long-read sequencing for barcoded mutagenized libraries by addressing sequencing errors and non-unique barcodes.

The paper creates a functional map of all possible missense variants in CHK2 to assess their impact on cancer risk.

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.

This study maps human glucokinase variant activity using a yeast complementation assay, identifying activity patterns linked to disease and providing insights for variant interpretation and therapeutic development.

The paper identifies 160 genes that suppress DNA damage in human cells through CRISPR/Cas9 screens, highlighting GNB1L's role in ATR biogenesis and its link to neuropsychiatric disorders.

This study creates a variant effect map for GDI1 missense variants using functional assays and machine learning to distinguish pathogenic from benign variants.

MaveRegistry is a platform for tracking and sharing multiplexed variant effect assays to reduce redundancy and enable collaboration in variant interpretation.

The paper creates a proactive map of CBS gene variant function and vitamin B6 response using yeast assays, predicting disease severity and therapy effectiveness.

The paper introduces MaveDB, a public repository for MAVE data, and MaveVis, a tool to visualize and contextualize variant effect maps.

The paper presents HuRI, a comprehensive human protein-protein interaction map, and demonstrates its utility in understanding cellular function and disease mechanisms.

The paper introduces BFG-GI to map DNA damage-dependent genetic interactions in yeast by combining party mating and barcode fusion genetics, revealing new condition-specific interactions.

This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.