Analysis Type: Whole Genome Analysis

Whole Genome Analysis Software for Precision Medicine

Address the unique challenges of whole genome sequencing (WGS) analysis. From petabyte-scale data management to clinical structural variant detection and non-coding region interpretation, VarSeq provides the end-to-end genomic analysis software solution.

Population Scale Ready
Sentieon DNAscope
BYOC & Air-Gapped Deployment

A Scalable, Unified Pipeline from FASTQ to Clinical Report

WGS interpretation software must handle more than just variant calling. Our unified platform integrates high-performance secondary analysis with clinical-grade tertiary analysis, delivering a seamless transition from raw data to actionable insights.

01

High-Performance Secondary Analysis

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 for both short-read and long-read sequencers.

Sentieon Details
02

Multi-Threaded WGS Analysis

Import and process genome-scale VCFs with multi-threaded performance. VarSeq handles the unique data scale of WGS without the performance bottlenecks found in legacy tools.

Analysis Workflow
03

Clinician-Ready Reporting

One-click generation of customizable clinical reports. Standardize your results with ACMG/AMP scoring, literature links, and lab-specific branding.

Reporting Details
WGS Filter Chain
4,892,140
Zygosity (Current) is (Heterozygous, Homozygous)
3,241,087
Genotype Qualities (GQ) (Current) ≥ 30
2,987,412
gnomAD AF < 0.01 OR Missing
128,491
Coding Impact OR SpliceAI ≥ 0.5
2,847
Warehouse Cohort AF < 0.005
614
ClinVar & ACMG Auto-Classification
Benign412
Likely Benign156
VUS38
Likely Pathogenic1
Pathogenic2
Final variants
3

Full-Spectrum Genomic Analysis

WGS analysis requires more than just SNV calling. VarSeq provides a unified environment for detecting and interpreting the full range of variation at genome scale.

SV & CNV Interpretation

Automate the interpretation of complex structural variants and copy number changes. Apply ACMG/ClinGen guidelines to ensure consistent classification across whole genome datasets.

CNV Interpretation

Pharmacogenomics (PGx)

Automate star-allele calling and drug-gene interpretation. Leverage CPIC guidelines to deliver actionable pharmacogenomic insights directly from WGS data.

PGx Capabilities

Short & Long-Read Support

Analyze data from any sequencing technology. VarSeq provides a unified platform for both short-read and long-read WGS, resolving complex regions with ease.

Long-Read Solutions
VSWarehouse — Enterprise Dashboard
Genomes
102,847
+3,241 this month
Reports
28,419
+891 this month
Alerts
12
Reclassifications
Assessment Catalogs
WGS — Rare Disease24,891 variantsActive
Population Screening8,214 variantsActive
PGx Diplotypes648 assessmentsActive
5 Workspaces · 42 Active Users
SSO Enabled RBAC Active

Optimized for Population Scale & Enterprise Security

Managing genome-scale data requires an enterprise-grade infrastructure. VSWarehouse centralizes your variant assessments, clinical reports, and longitudinal data into a secure, searchable repository — whether deploying on-premise, in a private cloud (BYOC), or air-gapped environment.

  • Population-Aware Interpretation

    Generate cohort-level allele frequencies from thousands of genomes to inform clinical classification.

  • VSPipeline Automation

    Full automation from FASTQ to report, including CNV computation and cohort management.

  • Flexible Deployment

    Deploy anywhere to meet compliance requirements: cloud, on-prem, or hybrid.

Explore VSWarehouse

"WGS provides the most comprehensive view of the genome, revealing new layers of genomic function and disease association. VarSeq simplifies the interpretation of these complex findings."

National-Scale Genome Initiatives

Supported by Golden Helix Enterprise Solutions

Genome Scale Insights & Webcasts

Bioinformatics experts demonstrate advanced genome analysis and population scale interpretation.

Featured Articles

All Genome Articles

On-Demand Webcasts

View All Genome Webcasts

Master the Full Spectrum of Genomic Variation

Unlock the potential of whole genome sequencing for your laboratory with VarSeq's enterprise-scale genomic analysis software.

WGS Scale
Non-Coding Interpretation
ISO 13485 Certified QMS