Treffer: Bilmem2/ACMG_Assistant: ACMG Variant Classification Assistant

Title:
Bilmem2/ACMG_Assistant: ACMG Variant Classification Assistant
Authors:
Can Sevilmiş
Publisher Information:
Zenodo
Publication Year:
2025
Collection:
Zenodo
Document Type:
E-Ressource software
Language:
unknown
Relation:
https://github.com/Bilmem2/ACMG_Assistant/tree/v2.0.0; https://zenodo.org/records/15832405; oai:zenodo.org:15832405; https://doi.org/10.5281/zenodo.15832405
DOI:
10.5281/zenodo.15832405
Availability:
https://doi.org/10.5281/zenodo.15832405
https://zenodo.org/records/15832405
Rights:
MIT License ; mit ; https://opensource.org/licenses/MIT
Accession Number:
edsbas.717DCC96
Database:
BASE

Weitere Informationen

What's New in v2.0.0 🔧 Complete Code Refactoring: Professional modular architecture with separation of concerns 🛡️ Robust Error Handling: Comprehensive type checking and graceful failure management 🧪 Extensive Testing Suite: 12+ test scenarios covering edge cases and real-world variants 📊 Enhanced Algorithm: Improved high-impact variant scoring and predictor normalization 🎯 Bug-Free Classification: Verified accuracy for pathogenic nonsense, VUS upgrades, and complex scenarios 📝 Professional Documentation: Clean code structure with comprehensive inline documentation 🚀 Performance Optimized: Faster processing and more reliable API integrations 📥 Downloads ACMG_Assistant.zip - Standalone executable (recommended) Source code - For Python developers and contributors ⚙️ Key Features Complete ACMG/AMP Guidelines: 2015 & 2023 standards with PP5/BP6 and PS2_Very_Strong 50+ In Silico Predictors: REVEL, CADD, AlphaMissense, VEST4, ESM1b, SpliceAI, MetaSVM, FITCONS VAMPP-Score Integration: Metascore with weighted predictor combination API Integration: ClinVar and Ensembl with intelligent caching Statistical Framework: Fisher's Exact Test, prevalence-based thresholds, conservation analysis