Welcome to GEMVAPlive
FBN1 Gene Data Aggregator
Advancing Research and Clinical Care
in FBN1-Related Disorders
What GEMVAPlive offers
Support for Research
To facilitate clinical and research use, GEMVAPlive is an open-access platform offering detailed variant-level predictions for FBN1, including integration with ClinVar, UMD, gnomAD, REVEL, AlphaMissense, and domain-specific data.
GEMVAP produces a binary pathogenicity classification, and its design supports hypothesis generation, variant prioritization, and exploratory work in rare variant discovery, making it a valuable resource for both translational and fundamental research.
Variant Analysis
Predictor weights and thresholds were retrained based on curated training variant sets, resulting in distinct GEMVAP versions, each reflecting different biological focuses and training assumptions.
Importantly, GEMVAP is a classification model, designed to provide a binary output: Pathogenic or Non-Pathogenic. Once the decision threshold is surpassed, the absolute score does not reflect the degree of risk; a higher score does not imply increased pathogenic potential beyond the binary classification.
Comprehensive Data Aggregation
GEMVAP (GEne-specific Missense VAriant Predictor) is a machine learning-based tool developed to predict the pathogenicity of missense variants by tailoring the prediction process to a single gene (FBN1), rather than applying a one-size-fits-all approach across the genome.
The model integrates a consensus of multiple recalibrated pathogenicity predictors, including tools such as SIFT, PROVEAN, REVEL, and others, each selected and optimized specifically for the structure and biology of FBN1.
Why Choose GEMVAP?
Reliable Data
Access to verified and up-to-date information from reputable sources.
Efficiency
A centralized tool for effective retrieval of relevant genetic data.
Community Engagement
A platform encouraging the exchange of insights among healthcare professionals and researchers.
About the 101 Genomes Foundation
GEMVAP is supported by the 101 Genomes Foundation, dedicated to advancing genomic research for rare genetic diseases. The foundation aims to improve patient outcomes by fostering global collaboration in genetics and clinical research.
