AUGMET Release Version v16.2.0
Release Notes: AUGMET Pro v2.4.0
This release focuses on enhancing variant interpretation workflows, improving pipeline performance for Large Language Model (LLM) integration, and ensuring compliance with the latest clinical reporting standards.
🧬 Bioinformatics & Pipeline Updates
Secondary Analysis Speed Boost: Optimized alignment and variant calling algorithms, resulting in a 25% reduction in total processing time for Whole Exome Sequencing (WES) runs.
Genome Build Support: Full integration of the GRCh38.p14 reference assembly, including improved handling of alt-contigs.
CNV Detection Refinement: Enhanced sensitivity for small-scale Copy Number Variations (CNVs) in gene-dense regions using our updated proprietary normalization logic.
📑 Clinical Interpretation & Reporting
Automated ACMG Classification: Introduced a beta "AI-Assistant" feature that suggests variant classifications based on integrated evidence from ClinVar, gnomAD, and curated literature.
Dynamic Report Templates: Users can now drag and drop sections (e.g., Methodology, Clinical Significance, Recommendations) to create customized, lab-specific PDF reports.
SOP Integration: Ability to lock specific interpretation workflows to ensure all lab technicians follow the same Standard Operating Procedure for variant filtering.
🛠 Platform & Security
Enhanced Audit Logs: Detailed tracking of every manual variant classification change, including the timestamp and the specific evidence cited by the pathologist.
Single Sign-On (SSO): Added support for Okta and Microsoft Azure AD to streamline institutional access management.
API v3.0: Launched a new RESTful API endpoint for seamless integration with external Electronic Health Record (EHR) systems like Epic and Cerner.
🐞 Bug Fixes
Fixed an issue where certain multi-allelic variants were being incorrectly merged in the VCF export.
Resolved a display lag when scrolling through large variant tables (10,000+ entries).
Corrected a formatting error in the "Variant Allele Frequency" (VAF) column in the Clinical Summary view.