Atina G. Coté

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.

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

This study identifies plasma protein biomarkers and mechanistic pathways in Parkinson's disease using deep proteomics and functional genomics.

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

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 creates a proteome-wide gain-of-function atlas to map chemotherapy responses and identifies drug combinations to overcome resistance.

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

The paper uses a yeast two-hybrid screen to identify novel effector-effector interactions in L. pneumophila, doubling the known number of such interactions.

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.

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.

satmut_utils is a tool for simulating and analyzing saturation mutagenesis data, showing that single-codon variants can alter mRNA abundance and demonstrating improved variant calling performance.

The paper maps binary SARS-CoV-2 protein interactions with host proteins, identifying key processes like immune signaling and ubiquitination, and suggests therapeutic targets.

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.

The paper constructs a high-quality yeast binary interactome map and compares inner- and outer-complexome organization, finding the outer-complexome contains more interactions and exhibits higher functional heterogeneity.

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 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.