Detect, annotate, interpret, and report the full spectrum of structural variation, including CNVs, breakends, gene fusions, and tandem repeats, all within a single clinical workflow.
VarSeq provides a unified solution for every class of structural variation: built-in CNV calling, import and interpretation of breakends and fusions, and tandem repeat expansion analysis.
Detect germline and somatic gains and losses with the built-in VS-CNV caller. Resolve single-exon events as small as 200bp across targeted panels, clinical exomes, and whole genomes. Eliminate the need for separate CMA or MLPA assays.
Import structural variants from Sentieon SV or external callers (Manta, Delly, LUMPY) via VCF. Annotate translocations, inversions, and gene fusions for both germline and somatic contexts. Identify clinically actionable fusion events in oncology panels.
Analyze repeat expansions and contractions associated with neurological and inherited disorders such as Huntington's disease, Fragile X, and Friedreich's ataxia. Generate specialized tandem repeat reports integrated into the clinical workflow.
From raw BAM files to finalized clinical reports, VarSeq provides a seamless pipeline for detecting and interpreting all classes of structural variation.
Execute the clinical-grade CNV caller directly on BAM files. Using matched controls and advanced normalization, VS-CNV identifies gains and losses across panels, exomes, and genomes.
Seamlessly import breakends, translocations, and tandem repeat calls from Sentieon SV, Manta, ExpansionHunter, or any VCF-producing caller.
Score CNV gains and losses using the ACMG/ClinGen framework in VSClinical. Generate unified clinical reports integrating CNVs, SVs, and small variants in a single document.
VarSeq isn't limited to a single caller — it's a comprehensive structural variation engine designed to meet the rigorous demands of clinical validation and adoption across all SV types.
Structural variations account for significantly more genetic variation than single nucleotide diversity, yet they are often overlooked in traditional bioinformatics pipelines focused on SNVs and Indels.
Detect single exons as small as 200bp with high and consistent accuracy using the built-in VS-CNV caller.
Import and annotate translocations, inversions, and gene fusions from external callers for germline and somatic workflows.
Specialized tandem repeat report for expansion disorders like Huntington's, Fragile X, and Friedreich's ataxia.
Distinguish copy-neutral LOH from heterozygous deletion events with integrated BAF analysis.
Request a personalized evaluation and see how it fits your workflow.
Accelerate the detection of pathogenic structural variants in gene panels and exomes. End diagnostic odysseys by surfacing small intragenic deletions and tandem repeat expansions missed by other callers.
Identify amplification, deletion, and gene fusion events in tumor samples. Use LOH analysis to detect copy-neutral events and gain deeper insights into the cancer genome.
Consolidate screening assays into a single NGS workflow. Detect multi-exon deletions in genes like BRCA1/2 and identify actionable gene fusions with clinical confidence.
Deep dives into CNV calling methodologies, structural variant analysis, and clinical reporting workflows.
Join leading clinical laboratories worldwide using VarSeq for integrated structural variant detection, classification, and reporting.