Sanja Rogić

The paper assesses challenges in reusing scRNA-seq data from GEO, finding that only ~40% provide usable processed data and <10% include cell-type annotations.

This paper evaluates using language models to improve gene-expression dataset discovery in GEO by comparing embeddings to GEO's search engine.

The paper develops a yeast growth assay to assess the functional impact of ALDH5A1 variants linked to autism spectrum disorder, showing they range from loss of function to normal activity.

This paper evaluates using GPT-4o to annotate mouse strains and cell lines in genomics data, achieving 77% and 59% accuracy, and identifies manual curation errors.

The paper assesses nine MECP2 variants in ASD using yeast and Drosophila assays, finding four as loss of function and five as functional, highlighting non-methyl DNA-binding roles.

ModelMatcher connects researchers, clinicians, and stakeholders in rare disease research to accelerate translational studies and collaborations.

The paper analyzes 58 SYNGAP1 variants using multiple assays to assess their impact on GTPase signaling, localization, and protein stability, revealing functional differences and pathogenicity classifications.

The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.

VariCarta aggregates and harmonizes genomic variants from ASD sequencing studies to prevent double-counting and improve association evidence.