Overview #
SeqSMART is an advanced genomic analysis and variant interpretation platform designed for clinical laboratories, research institutions, and genomic professionals.
It combines automated ACMG classification, phenotype-driven prioritization, and integrated data visualization into a single, efficient system — empowering experts to transform genomic data into actionable insight.
At its core, SeqSMART unites science, innovation, and technology to accelerate variant interpretation with transparency and reproducibility.
SeqSMART — where genomics meets the future.
Key Objectives #
SeqSMART was built to meet the needs of professional genomic environments that demand both precision and scalability.
Its key objectives include:
- Delivering accurate and automated ACMG classification, supported by a transparent rule-based framework.
- Providing phenotype-driven variant prioritization, leveraging curated Human Phenotype Ontology (HPO) and OMIM databases.
- Facilitating efficient case management and collaboration among analysts, checkers, and reviewers.
- Ensuring data security and privacy compliance under GDPR and CCPA standards.
- Supporting modular integration with institutional systems and local deployments.
Who Uses SeqSMART #
SeqSMART is designed for expert users who work with genomic data professionally, including:
- Clinical geneticists and molecular pathologists
- Diagnostic and reference laboratories
- Bioinformatics and research institutions
- Pharmaceutical and biotechnology R&D teams
Whether used for clinical variant interpretation, large-scale genomic research, or internal development pipelines, SeqSMART provides the flexibility and analytical depth required for professional workflows.
Core Components #
Case Manager #
A structured environment for managing genomic analysis cases — from data upload to final report generation. It tracks each step of the workflow, providing a clear view of case progress and responsible roles.
Variant Interpretation Engine #
SeqSMART’s core analytical module automates ACMG classification by evaluating each criterion systematically.
It integrates multiple evidence sources — population frequency, computational predictions, functional data, segregation evidence, and literature — to reach a transparent classification outcome.
Phenotype Integration #
The platform incorporates phenotype data through curated HPO and OMIM databases, allowing users to correlate clinical presentations with genetic findings efficiently.
Gene Details and 3D Visualization #
Comprehensive gene pages display annotations, associated disorders, cross-references (ClinVar, OMIM, UniProt, gnomAD), and 3D protein structures, giving users a complete view of variant impact.
Report Generator #
A configurable reporting system that produces structured, traceable, and exportable documents for institutional or clinical use. Reports capture all analysis layers, reviewer decisions, and classification evidence.
Platform Workflow Overview #
SeqSMART follows a systematic, multi-layer workflow designed for transparency and quality control:
- Case Creation: Users upload variant data (VCF) and, optionally, phenotype or pedigree information.
- Automated Analysis: The system performs annotation, ACMG evaluation, and prioritization.
- Analyst Review: Experts review and, if necessary, adjust evidence or classifications.
- Checker Validation: A secondary reviewer validates the findings and ensures report accuracy.
- Report Generation: The finalized report is produced and archived with full traceability.
This structured approach ensures consistency across analyses and compliance with institutional standards.
Technical Infrastructure #
SeqSMART is powered by a high-performance MongoDB-based architecture, designed to handle large-scale genomic datasets efficiently.
- Storage: Utilizes SSD-based servers for high-speed access and HDD-based backup for long-term storage.
- Scalability: Supports multi-server installations for parallel processing and institutional scaling.
- Integration: Provides RESTful APIs for interoperability with LIMS, EMR, or internal informatics systems.
- Deployment Options: Available as local, on-premise, or hybrid installations — ensuring data sovereignty and full institutional control.
Data Privacy and Security #
SeqSMART is fully aligned with GDPR and CCPA data protection regulations.
It enforces strict standards in:
- Data encryption (at rest and in transit)
- Access control with tiered user permissions
- Audit logging for traceability and accountability
- Anonymization and secure deletion of sensitive case data
These measures ensure that all genomic and personal information is managed responsibly and securely.
Continuous Improvement #
SeqSMART evolves continuously through regular updates that enhance analytical logic, expand database integrations, and improve user experience.
All changes are documented in the platform’s Release Notes, ensuring transparency for institutional users.
Feedback from laboratories and expert users directly contributes to SeqSMART’s roadmap, maintaining alignment with the latest genomic interpretation standards and research needs.
SeqSMART is built for genomic experts who value accuracy, traceability, and analytical depth.
By combining advanced ACMG evaluation, phenotype-driven prioritization, and structured case management within a secure framework, SeqSMART delivers a comprehensive solution for modern genomic analysis.
SeqSMART — empowering professionals to make genomic data meaningful.