Jeremy Stone

MaveMD: A functional data resource for genomic medicine

MaveMD provides a clinical interface for MAVE data to classify variants of uncertain significance and improve genetic medicine outcomes.

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Kury-Isidor Syndrome

The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.

Gene- and domain-aware calibration increases the clinical utility of variant effect predictors

This paper improves variant effect predictors by calibrating them gene- and domain-aware, increasing evidence assignment and accuracy for variant classification.

A scalable approach to resolving variants of uncertain significance

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 proteomic landscape and temporal dynamics of mammalian gastruloid development

This study uses quantitative proteomics to analyze human and mouse gastruloids at four stages, revealing protein dynamics, discordance with transcriptomes, and gene networks linked to developmental defects.

MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays

MaveDB v2 curates over three million variant effects from MAVE studies to facilitate analysis and dissemination of functional assay data.

SwabExpress: An end-to-end protocol for extraction-free COVID-19 testing

SwabExpress is a simplified COVID-19 testing protocol that eliminates the need for transport media and nucleic acid extraction, achieving high sensitivity and specificity.