Accelerate rare disease diagnosis by shortening the diagnostic odyssey, improving diagnostic yield, and enabling precise molecular diagnoses through integrated exome and genome sequencing workflows.
Mendelian traits cataloged to date
Integrated SNV & CNV detection workflow
Average postnatal diagnostic yield for WES
Rare diseases, while individually rare, collectively affect millions. For many patients, the path to a diagnosis is a "diagnostic odyssey" lasting years. Next-generation sequencing (NGS) has revolutionized this field by enabling the assessment of thousands of conditions in a single assay.
Moving beyond traditional gene panels to whole exome (WES) or whole genome (WGS) sequencing increases the probability of finding the molecular cause of disease.
Reduce the need for sequential testing, microarray analysis, and MLPA by integrating all variant types into a single clinical pipeline.
A molecular diagnosis can guide medical management, inform recurrence risk for families, and connect patients to clinical trials.
Trio and extended family analyses are the gold standard for rare disease investigation. By comparing the proband's variants against parental genotypes, VarSeq highlights the most likely pathogenic candidates.
Automated filtering for de novo, compound heterozygous, and homozygous recessive patterns in trios and larger families.
Model complex inheritance patterns for extended families, including consanguineous pedigrees and multi-generational studies.
Visually confirm variant segregation across affected and unaffected family members to build evidence for pathogenicity.
Automated identification of variants matching expected Mendelian inheritance models (AD, AR, XL, mitochondrial).
A complete diagnosis requires looking at the full spectrum of variation. VarSeq integrates SNVs, indels, and CNVs into a single guided ACMG workflow.
Automate the scoring of germline variants using the ACMG five-tier framework. VSClinical aggregates population data, functional predictions, and literature evidence for rapid classification.
Clinical InterpretationFirst to commercialize the ACMG/ClinGen CNV guidelines. Score gains and losses alongside small variants in a unified interface, including family-based segregation analysis.
CNV AnalysisVisualize variants in their genomic context with integrated GenomeBrowse. Cross-reference against master literature databases like Genomenon to find clinical evidence.
GenomeBrowseWhether you are running targeted gene panels, whole exomes, or moving to clinical genomes, VarSeq provides a scalable infrastructure for high-throughput rare disease diagnosis.
Explore our featured articles and expert-led webcasts on clinical rare disease diagnosis.
Join leading clinical labs worldwide using Golden Helix to shorten the diagnostic odyssey and deliver precise molecular answers.