VarSeq Suite: NGS Variant Analysis & Interpretation

VarSeq Dx is Golden Helix's clinical genomics software, CE-marked as an in vitro diagnostic medical device under Regulation (EU) 2017/746 (IVDR). VarSeq Suite is labeled for Research Use Only and is not a medical device; it has not been cleared, approved, certified, or registered by any regulatory authority for clinical diagnostic use. See VarSeq Suite and VarSeq Dx on the Security & Compliance page for a side-by-side comparison.

Yes. VarSeq handles WES and WGS sample sizes with high-performance filtering and phenotype-driven prioritization, surfacing variants of interest without bogging down on millions of rows.

Golden Helix provides monthly curated updates to all major annotation sources, including ClinVar, gnomAD, and OMIM, on both GRCh37 and GRCh38, ensuring your analysis is based on the most current data.

Yes. VarSeq runs dedicated workflows and guided clinical interpretation for germline (ACMG) and somatic (AMP) variants on the same platform, sharing one filter library and one report template across both.

Yes. VarSeq supports short-read data from Illumina and long-read data from PacBio and Oxford Nanopore. Through our partnership with PacBio, VarSeq delivers optimized workflows for long-read variant calling, structural variant detection, and tandem repeat analysis, helping resolve complex genomic regions that short-read platforms miss.

VarSeq handles a wide range of study designs. Analyze single proband samples, parent-child trios, and extended pedigrees for rare disease diagnosis. Run carrier screening with partner-paired workflows. Perform cohort studies with population-level filtering and shared variant assessment. Whether you are running a targeted gene panel, clinical exome, or whole genome, VarSeq adapts to your sample configuration.

Yes. VarSeq provides equal support for both GRCh37 and GRCh38, including updated reference sequences, gene models, and the full suite of clinical annotations on each assembly. Where possible, annotations are natively aligned to each genome build; when native alignments are not available, we use liftover so every clinical annotation is accessible on both assemblies. VarSeq also allows you to liftover your variants on import, so you can annotate older GRCh37 data against the latest GRCh38 resources.

Yes. VarSeq runs on your local infrastructure or private cloud, providing complete data sovereignty. Air-gapped environments are also supported for maximum security.