Turn genomic complexity into clinical clarity

AI-augmented genomic interpretation, built for clinical reasoning

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Search varient in SeqSMART

Refrence

Analysis

Sanger Sequencing File Upload & Analysis

Upload Sanger sequencing files to inspect sequence quality, visualize traces, and support confirmatory variant review

Drop .ab1 files here

or browse from your computer

Have a VCF file?

Creat an account to run deeper analysis and manage cases

Clear Variant Interpretation

AI-Assisted Prioritization

Explainable Clinical Evidence

Phenotype-Driven Analysis

Pedigree-Aware Reasoning

Multi-Source Annotation

Gene–Disease Context

One platform for explainable variant interpretation

SeqSMART brings together variant-level evidence, gene–disease knowledge, phenotype context, inheritance modeling, and ACMG-based reasoning in a single interpretation workspace.

Analyst-Friendly Workflow

Reduce manual evidence gathering and focus expert review on the most relevant candidate findings.

Explainable ACMG Classification

Review how each ACMG criterion contributes to the final interpretation, with clear evidence layers designed to support expert decision-making.

Gene & Disease Context

Move from a variant to the broader biological context: associated disorders, inheritance patterns, phenotype links, and curated clinical evidence.

Phenotype-Driven Prioritization

Connect patient features with known disease phenotypes to focus attention on the most clinically relevant genes and variants.

Pedigree-Aware Analysis

Evaluate singleton, duo, and trio cases with inheritance-aware logic, including autosomal dominant, autosomal recessive, X-linked, and de novo models.

Sanger Confirmation Support

Upload Sanger sequencing files to support confirmatory review and connect sequence-level inspection with variant interpretation.

Features

Designed for geneticists, bioinformaticians, and diagnostic teams

Clinical Review Support

SeqSMART is designed to support expert interpretation, not replace clinical judgment

Variant Interpretation

Search SNVs, indels, and clinically relevant genomic changes with structured interpretation support

Multi-source Annotation

Bring together population, clinical, functional, computational, and disease-specific evidence

Phenotype Matching

Use patient symptoms and HPO-style phenotype representation to improve candidate prioritization

Inheritance Modeling

Support family-aware analysis using singleton, duo, and trio configurations

ACMG Evidence Layer

See how evidence contributes to pathogenicity assessment instead of relying on a black-box score

Evidence

Validated on clinically realistic rare disease cases

SeqSMART was evaluated in a retrospective benchmarking study using real clinical rare disease cases, including singleton, duo, and trio configurations

Benchmark study

SeqSMART was evaluated on a retrospective rare disease cohort with real diagnostic complexity, including mixed family structures, inheritance models, multi-variant cases, and previously unresolved cases.

Stats

256

Pedigrees evaluated

Real-world rare disease cohort

314

Individuals analyzed

Clinical diagnostic setting

98.5%

Top-10 recall

Clinically reported variants recovered within top-ranked candidates

34

Additional solved cases

Cases unresolved in the original workflow

Singleton benchmark: cumulative recall

SeqSMART vs Exomiser

98.5% vs 74.6%

Top-10 recall

SeqSMART showed higher recall than Exomiser in the singleton benchmark subset.

Singleton subset

67 cases

92 variants

Growing with every interpreted case

SeqSMART continues to expand its interpretation coverage through growing case analysis volume, large-scale precomputed variant knowledge, and adoption by early diagnostic and research users

Processed cases

1,280+

Clinical and research workflows

Processed Variants

4.6M+

Reviewed across analyses

Precomputed variants

12B+

Continuously available in the knowledge base

Institutions / clients

1,280+

Early diagnostic and research adopters

Countries reached

4+

Growing international reach

Trusted by diagnostic and research partners, connected through leading innovation networks

LOGO

“

Before SeqSMART, complex ACMG classifications could take our team several days of manual review. Now, we can reach an initial interpretation much faster, allowing us to spend more time on the cases that truly require expert attention. The platform doesn’t replace clinical judgment — it strengthens it.

Dr.A

Dr.Ali Ahani

Lead Clinical Geneticist - Mendel lab.

How SeqSMART works
From clinical case to expert ready interpretation

SeqSMART guides diagnostic teams through a structured case workflow, from pedigree creation and phenotype entry to VCF processing, variant prioritization, expert review, and report generation.