Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Machine-learning triage of LDLR variants of uncertain significance using predictor concordance and ACMG-aligned evidence mapping
Validation of AlphaMissense
NextGen-Era is an educational and interactive web application designed to support children's personal growth and learning through engaging activities. Built with Laravel and Vue.js, it features a secure API, responsive user interface, and automated deployment via GitHub Actions and Microsoft Azure.
VUS Meta-Predictor: Genomic language model-powered variant interpretation. Combines ESM-2, amino acid physicochemistry, and gene constraints for calibrated missense pathogenicity prediction (AUROC 0.962).
Supplementary Data for Pillai et al., 2025.
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