Step-by-step tutorials for the VarSeq Suite, covering everything from basic variant analysis to advanced clinical workflows.
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Start here. Covers a basic variant analysis workflow including data import, annotation, filtering, and results exploration.
A straightforward introduction to setting up filter chains, annotating against COSMIC and ClinVar, and reviewing results in a targeted gene panel workflow.
Clinical Interpretation
Guided classification workflows for germline, somatic, and carrier screening applications.
Walk through the ACMG/AMP variant classification workflow, including automated criteria scoring, evidence review, and pathogenicity assessment.
Trio-based ACMG classification with pedigree-aware filtering, de novo detection, and family segregation analysis for rare disease diagnostics.
Somatic variant interpretation using AMP/ASCO/CAP tiered classification for oncology gene panels and tumor profiling workflows.
Carrier screening workflow using the ACMG classification framework, covering gene panel interpretation and carrier status reporting.
Application-specific tutorials for CNV calling, pharmacogenomics, and CNV onboarding.
Learn the VS-CNV calling algorithm for targeted gene panels, including control sample setup, normalization, and CNV event review.
CNV detection best practices for whole exome data, covering control cohort selection, quality filtering, and exome-specific considerations.
Whole genome CNV detection at scale, including bin-based analysis, LOH detection, and visualization of genome-wide copy number profiles.
End-to-end pharmacogenomics workflow from variant import to final PGx report, including star allele calling and drug-gene interaction analysis.
Comprehensive CNV training covering reference set management, CNV calling algorithms, filter recommendations for CNV analysis, and VSClinical CNV interpretation using the ACMG/ClinGen framework.
Tutorials for our research and visualization products.
Our technical support team can walk you through any tutorial, troubleshoot issues, or help you apply these workflows to your data.