GenomeTransformer-Splice: GenomeTransformer: Deep Generative Modeling of Non-Coding Variant Splicing & Pathogenicity Across 100,000 Rare Diseases

GenomeTransformer-Splice is an open-source clinical AI foundation model engineered for Medical Genetics & Rare Diseases and Genomic Sequence / RNA-Seq applications.

Key Features

• Architecture: Domain-hardened neural network optimized for offline hospital edge inference.
• License: Apache 2.0 Open Source.
• Benchmarks: Validated against ClinVar Hard Positives, gnomAD v4, GTEx v8 Splicing Quantitative Trait Loci.
• Repository: https://github.com/OpenPHRorg/genometransformer-splice

Verification & Deployment

Available for air-gapped deployment in hospital IT environments, clinical research laboratories, and healthcare edge devices.