Bioinformatics for Research and Clinical Practice
Our platform bundles bioinformatics methods for daily laboratory work – from raw data processing to interpretable variant lists.
Automated classification of sequence variants according to ACMG criteria. The system provides a prioritized list of pathogenic candidates and documents each decision with the underlying evidence.
Benefit: Reduced manual review time for exome and panel analysesChecks FASTQ files for base quality, adapter contamination, and GC deviations. Anomalies are flagged directly in the workflow before the actual analysis begins.
Benefit: Fewer erroneous results through early data validationDetection of deletions, duplications, and inversions from short reads. Results are compared against reference datasets and visualized with copy-number profiles.
Benefit: More complete diagnostics even for complex chromosomal patternsLinks clinical symptoms with gene lists and known associations. The platform suggests suitable genes and filters out variants that do not match the phenotype.
Benefit: Faster narrowing down of relevant candidates in routine diagnosticsParallel analysis of multiple samples with uniform parameters. Results are exported as tabular reports and can be processed directly in statistical software.
Benefit: Reproducible analysis pipelines for cohorts and longitudinal studiesInterface for programmatic access to gene annotations, population frequencies, and clinical databases. Ideal for custom scripts and internal pipelines.
Benefit: Flexible integration into existing research infrastructureOur platform offers three coordinated packages for different project phases – from initial sequence analysis to a complete integration solution. Each package includes access to our AI-powered analysis environment, documented pipelines, and direct support from our bioinformatics team.
For individual research projects: quality control of raw data, alignment against reference genomes, and basic variant annotation. Includes 5 concurrent analysis jobs and 30 days of data retention.
02For ongoing studies: advanced variant classification with AI models, structural variant analysis, and automated report generation. Parallel processing of up to 20 samples as well as API access for your own workflows.
03For institutes and clinics: full integration into existing laboratory information systems, a multi-tenant environment with granular access rights, and GDPR-compliant long-term archiving. Includes training for your team and custom pipeline adaptation.
Instead of isolated individual tools, GenomLab provides an end-to-end pipeline: quality control, alignment, variant calling, and functional assessment in a traceable workflow.
Each new model version is tested against curated datasets such as GIAB. You see sensitivity and precision per variant class before releasing the analysis for your study.
Our API and FHIR module enable direct transfer of sample data from your existing infrastructure—without media breaks or manual exports.
From parameterization to reference genome version: all steps are documented transparently. This facilitates auditing and collaboration in multicenter projects.
Your contact knows the platform in detail and works with sequence data themselves. This shortens onboarding time and helps interpret unexpected results.
Three articles we consider particularly relevant for your work with genetic datasets – from variant analysis to secure data storage.
How trained models detect pathogenic mutations in large datasets and where manual validation by experts remains indispensable.
Read articleAutomated quality controls, parallel processing, and intelligent caching – a guide to more efficient bioinformatics pipelines in everyday research.
Read articleEncryption, pseudonymization, and granular access controls: how research platforms can process sensitive patient data in a legally compliant manner.
Read article