Unlock the full potential of long-read sequencing. From structural variant detection and phasing to base modification visualization, VarSeq provides the most comprehensive toolkit for PacBio HiFi and Oxford Nanopore data analysis.
While short-read sequencing excels at SNV detection, long-read technology provides the structural context necessary to resolve complex genomic regions, repetitive sequences, and large-scale structural variants.
Identify large deletions, duplications, inversions, and translocations with high precision. Long-reads allow for direct observation of breakpoints, resolving variants that are invisible to short-read read-depth algorithms.
CNV & SV AnalysisResolve compound heterozygosity and determine if variants are in-cis or in-trans. Long-reads provide long-range phasing information, essential for clinical diagnostics in rare disease and pharmacogenomics.
Directly visualize 5mC methylation and other base modifications in GenomeBrowse. Gain early insight into epigenetic markers alongside primary sequence data without bisulfite treatment.
Visualize Large AlignmentsPhasing data confirms that two pathogenic variants are located on opposite alleles (in-trans), supporting a clinical diagnosis of an autosomal recessive condition.
Labs don't need to choose one technology — they need a platform that handles both. VarSeq provides a single environment for short-read targeted panels and long-read whole genomes, so you can use the right sequencing approach for each clinical question.
Keep using cost-effective short-read panels for hereditary cancer, cardiac, and other validated assays where deep coverage and proven accuracy matter most.
Use long reads where short reads fall short: SMN1/SMN2 copy number and conversion, CYP2D6 star-allele phasing, and other complex pharmacogenomic loci that require long-range haplotype resolution.
Run full WGS on PacBio HiFi or ONT for comprehensive SV detection, genome-wide phasing, and base modification analysis — all interpreted within the same VarSeq platform your team already knows.
Validated clinical panels with deep coverage for SNVs, indels, and read-depth CNV calling.
PacBio HiFi & ONT for SVs, phasing, methylation, and complex gene resolution.
One set of filter workflows, ACMG classification tools, and clinical reports — regardless of whether the input is Illumina, PacBio, or ONT.
Long reads resolve complex structural variants and repetitive regions like SMN1/SMN2 that are invisible to short-read sequencing, unlocking diagnoses for previously unresolved cases.
Long-read sequencing directly detects gene fusions, complex structural rearrangements, and phased somatic variants that drive therapy selection in advanced cancers.
Accurately resolve SMN1 copy number, CYP2D6 haplotypes, and other complex loci critical for carrier screening that short-read sequencing struggles to characterize.
Explore the platform capabilities and sibling solutions that support advanced long-read analysis workflows.
Comprehensive annotation and filtering engine for long-read data.
Leverage read-depth and SV breakpoints for clinical-grade CNV calls.
Interactive visualization of long-range alignments and phasing.
Scale your long-read workflows to full genome-level analysis.
Expert insights and webcasts on the latest in long-read sequencing technology.
Join the clinical laboratories and research centers worldwide that trust Golden Helix for their advanced sequencing analysis workflows.