Streamline your whole exome sequencing (WES) workflows. From alignment and variant calling to ACMG classification and clinical reporting, VarSeq provides the end-to-end solution for clinical laboratories.
Clinical laboratories require a robust, reproducible, and auditable pipeline for exome analysis software. VarSeq simplifies the transition from FASTQ to clinical report, eliminating the complexities of custom bioinformatics scripts.
Powered by Sentieon's optimized implementation of GATK models, achieve mathematically equivalent results with massive throughput gains. Sentieon DNAscope provides improved accuracy through enhanced active region detection, powerful local assembly, and pre-trained machine learning models.
Sentieon Integration DetailsReal-time filter chains allow for the systematic reduction of thousands of variants to a manageable list of clinically significant candidates. Leverage industry-leading databases including ClinVar, OMIM, and ClinGen.
Explore Annotation SourcesVSClinical guides analysts through the ACMG/AMP classification framework, providing transparent reasoning and automated scoring for every variant. Consistently classify findings as Pathogenic, Likely Pathogenic, or VUS.
Classification WorkflowMissense in sodium channel gene. Associated with Dravet syndrome. ClinVar: Pathogenic (reviewed by expert panel).
Two heterozygous variants in trans. Usher syndrome type 2A. Phase confirmed by parental genotypes.
Diagnosing rare genetic disorders requires powerful trio/quad analysis capabilities. VarSeq automates the identification of de novo mutations, autosomal recessive (including compound heterozygous) events, and X-linked inheritance patterns.
Prioritize variants based on phenotype-to-gene matching using HPO and OMIM terms.
Instantly flag variants matching family affection status and pedigree relationships.
Automatic detection and phase assessment of compound heterozygous variants.
Generate structured reports for trio analysis with secondary findings and discussion sections.
Exome capture is inherently uneven — some genes and exons consistently underperform. VarSeq provides per-gene coverage metrics so you can verify that every clinically relevant region meets your depth thresholds before reporting results.
Report the percentage of each gene's coding region covered at a configurable depth threshold — for exomes, typically 80x or higher — so you know exactly where gaps exist.
Flag specific genes of interest — such as BRCA1, CFTR, or disease-specific gene lists — and verify adequate coverage before finalizing clinical interpretation.
Assess overall on-target rate, mean depth, and uniformity metrics to catch library prep or capture issues before they affect downstream results.
Scalable genomic analysis requires more than just a workstation. VSWarehouse centralizes your variant assessments, clinical reports, and longitudinal data into a secure, searchable repository.
Exome sequencing is the frontline tool for diagnosing rare genetic disorders. Trio analysis with de novo, compound het, and phenotype-based prioritization identifies causal variants.
Comprehensive exome analysis captures variants across all known cancer susceptibility genes, going beyond limited panels to detect findings in less commonly tested loci.
Exome-based carrier screening enables partner-paired workflows across hundreds of recessive conditions, providing broader coverage than traditional targeted panels.
VarSeq isn't just a variant caller—it's a comprehensive ecosystem for clinical genomics.
Integrated clinical-grade CNV calling from exome read depths. Resolve single exon events.
Resolve complex SVs and tricky genes with PacBio HiFi and Oxford Nanopore long-read sequencing.
High-performance visualization of BAM and VCF files with interactive annotation overlays.
Move beyond targeted panels to full-scale whole genome sequencing analysis workflows.
Stay updated with the latest in NGS analysis, ACMG guidelines, and clinical exome implementation.
Join the hundreds of clinical laboratories worldwide that trust Golden Helix for their precision medicine workflows.