Research NGS bioinformatics focuses on variant discovery, functional annotation, and exploratory data analysis. Its tools are designed for flexibility and scale. Clinical bioinformatics adds structured pathogenicity classification to ACMG/AMP guidelines (where a clinical-grade interpretation product/service supports it). It also adds audit-ready reporting, quality management system integration, and the regulatory compliance features required for diagnostic use.
NGS - Next Generation Sequencing
NGS Analysis Software and Bioinformatics Pipelines
Cloud-based NGS analysis software for variant calling, annotation, and clinical reporting
This pulls more biological signal from your NGS reads, from alignment through to a clinical-ready report. It supports your whole-genome, whole-exome, and gene panel data. Clinical interpretation modules assess your variant pathogenicity against curated databases in real time. Research-focused workflows support your variant discovery and functional annotation without a clinical reporting requirement.
The platform is designed for laboratories moving from raw FASTQ files to annotated VCF output. You get this without building and maintaining local bioinformatics pipelines. Cloud infrastructure means compute and storage scale with your project size, and subscription tiers match your sample volumes per year.
This is a software subscription rather than a physical kit. Pricing is on request and depends on your sample volume, workflow type, and whether you need clinical reporting modules.
- Research or clinical use. VarSome Premium suits research-grade variant interpretation, giving you priority access to the VarSome knowledge base, extra annotation sources, and a built-in somatic classifier. VarSome Clinical suits diagnostic work as a CE-IVDR Class C certified platform that calls, annotates and classifies variants for reporting under ACMG/AMP guidelines.
- Sequencing type. Both VarSome Premium and VarSome Clinical handle whole-genome, whole-exome and gene panel data. VarSome Clinical adds dedicated germline and somatic pipelines, with support for trios, families and cohorts.
- Deployment and compliance. VarSome Premium runs as a subscription on the VarSome.com community platform. VarSome Clinical is HIPAA, ISO 27001 and ISO 13485 compliant, with cloud deployments in Switzerland, the USA and Saudi Arabia, useful if your lab needs a certified diagnostic workflow.
- Pricing. Both VarSome Premium and VarSome Clinical are quote-based, so no list prices apply. Pricing depends on your sample volume, workflow type, and whether clinical reporting modules are required.
Applications
Germline variant calling and annotation
Pipelines take FASTQ output from your sequencing service or in-house run, align reads, call SNVs and indels, then annotate against ClinVar and OMIM.
Somatic variant analysis in cancer
Tumour-normal analysis identifies somatic mutations and structural variants, detecting low-frequency variants in your liquid biopsies.
Exome and panel interpretation
Clinical interpretation suites classify variants from targeted sequencing panels against ACMG/AMP standards, where a clinical-grade product supports it.
Pharmacogenomics
Platforms integrate star-allele calling for CYP450 and other drug-metabolism genes with variant annotation, supporting your genotype-guided prescribing research.
Research and translational workflows
Flexible annotation engines process VCF files from any capture or whole-genome strategy, supporting population genetics and biomarker discovery.
Trio and family-based rare disease analysis
Dedicated pipelines analyse parent-child trios and family cohorts for de novo and inherited variants, core to paediatric and prenatal testing.
Product Catalog
Browse the Catalog
VarSome Bioinformatics Suites
Browse catalog
Frequently asked questions
Variant annotation adds biological context to raw variant calls. It cross-references allele frequency in population databases, predicted functional effect on protein, disease associations in ClinVar and OMIM, and conservation scores. Without annotation, a VCF file containing thousands of variants cannot be efficiently triaged to find those most likely to be clinically or biologically significant.
Yes. Cloud-based platforms handle whole-genome, whole-exome, and gene panel data with equivalent analytical accuracy. Cloud infrastructure scales compute resources to match run size, removing the need for local high-performance computing clusters. Data security, user access controls, and storage tiering are configurable to meet institutional data governance requirements.
Most NGS analysis platforms accept FASTQ files directly from sequencers as primary input. Alignment (BAM/CRAM) and variant call (VCF/gVCF) files are commonly accepted for re-analysis or annotation-only workflows. Match reference genome versions and annotation database versions to the original sequencing run. This keeps variant coordinates consistent.
Product catalogs
Not sure which catalog to start with? We will help you find the right products.
Tell us what you are looking for — antibodies, kits, proteins, or supplies — and our team will point you to the best catalog filters, suppliers, and product matches for your workflow.
