Solutions for Genetic & Rare Disease 

Improve the accuracy of variation ratings

Current clinical variant interpretation guidelines involve hundreds of complex criteria and decision rules, while keeping pace with the rapidly evolving scientific literature remains challenging and may hinder timely updates. Conventional database-based classification or variant annotation approaches may lead to inaccurate variant interpretation, potentially resulting in incorrect clinical decisions or inappropriate patient stratification in clinical trials.​ Sequanta Technologies provides professional medical genetics interpretation services based on the latest scientific evidence. By integrating independently developed and validated interpretation software with standardized analysis and validation workflows, we enhance the accuracy of variant classification and deliver comprehensive, precise, and scientifically rigorous molecular diagnostic insights to support clinical decision-making.

Advantages

Latest Literature Evidence

Based on the specific variants identified in each subject/sample, literature mining is performed using the latest publications to ensure timely evidence updates and address the limitations of public databases in providing up-to-date information.

Accurate Interpretation

Currently, 25 guidelines and recommendations issued by ACMG and related professional organizations are incorporated into our interpretation workflow. Detailed criteria are regularly updated and optimized (within 3 months) to support the development of medical interpretation software and standardized analysis workflows, enabling trained analysts to achieve accurate variant classification.

Clear Variant Information

Transcript IDs for genes with multiple transcripts are regularly updated to ensure the use of clinically recommended transcripts that comply with international standards.

Comprehensive Internal Classification Database

Variant classification data are regularly updated based on the latest guidelines and literature evidence, currently covering classification information for millions of variant sites.

Easy to Understand Report

The report content and interpretation comply with professional standards, with clear and concise key findings to facilitate clinical understanding.

Timely Report Delivery

Depending on the testing purpose, the turnaround time is typically 14–28 calendar days to meet the reporting requirements of clinicians and research institutions.

Cases

Case 1: Correct Application of Variant Interpretation Criteria

ote: Some genetic interpretation reports fail to apply the POLG gene-specific variant interpretation criteria established by the ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel and instead incorrectly apply ACMG evidence criteria. This may result in false-positive variant classifications, as illustrated in the example.

Variant of Uncertain Significance (VUS)

Likely Pathogenic (LP)

Accurate criteria-based classification

Incorrect criteria-based classification 

Case 2: Accurate Clinical Reporting

Note: Some genetic interpretation reports rely heavily on automated reporting workflows to minimize manual review, often generating reports containing excessive irrelevant variant information. This may increase report complexity, prolong review time, and impose an unnecessary interpretation burden on clinicians. Sequanta Technologies delivers concise, clinically relevant, and professionally curated reports that support efficient and accurate clinical decision-making.

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Accurate Linking of Variant Tables to Corresponding Variant Content

Simple variant description 

Report only clearly defined gene descriptions 

Provide necessary supporting documents based on specific product or case requirements

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Variant information may not correspond to biologically relevant transcripts and may sometimes be unavailable.

Excessive reporting of clinically irrelevant information makes it difficult to understand the rationale behind variant reporting.

Reporting non-reportable variants without adequately evaluating conflicting evidence may lead to misleading clinical interpretations.

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Services