Clinical Bioinformatics

Bioinformatics support for clinical genomics, rare disease, and oncology sequencing.

SciBerg provides clinical bioinformatics support for whole-genome sequencing, whole-exome sequencing, clinical exomes, gene panels, tumour biopsy sequencing, and custom translational genomics projects. We combine validated NGS analysis, current references and databases, comprehensive quality reporting, AI-assisted interpretation, and expert scientific review.

Clinical sequencing services

Analysis workflows for germline, tumour, and translational genomics projects.

Services are designed for de-identified sequencing data and project-specific clinical or phenotypic information provided by the client.

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Whole-genome sequencing analysis

Investigation of putative causes of monogenic diseases in WGS data, including optional analysis support for mitochondrial DNA genes.

  • FASTQ/BAM quality control
  • Alignment and variant calling
  • Variant filtering and prioritization
  • Comprehensive data-quality report
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Whole-exome and panel sequencing

Analysis of whole-exome sequencing, clinical exome sequencing, and disease- or gene-specific panel sequencing data.

  • Exome or panel QC metrics
  • SNV/indel-oriented analysis
  • Candidate variant prioritization
  • Clinical-context annotation support
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Tumour biopsy analysis

Comprehensive analysis of WGS, WES, or panel sequencing data obtained from tumour biopsy samples.

  • Cancer driver gene analysis
  • Druggable mutation lists
  • Common and custom algorithms
  • Oncology-focused summaries
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Liquid biopsy and ctDNA projects

Custom bioinformatics support for non-invasive diagnostics, circulating nucleic acids, tumour monitoring, and biomarker-oriented studies.

  • Low-frequency variant workflows
  • Custom filtering strategies
  • Research and translational reporting
  • Project-specific QC design
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AI-assisted variant interpretation

AI-enabled support for literature review, phenotype-to-gene context, report drafting, and internal knowledge extraction.

  • Literature-context summaries
  • Evidence organization
  • Automated report templates
  • Human-in-the-loop review
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Custom clinical genomics workflows

Project-specific pipelines for academic, clinical, biotech, and industrial collaborators with specialized sequencing or reporting needs.

  • Customized reference databases
  • Pipeline automation
  • Secure reporting workflows
  • Reproducible scripts and methods
Workflow

From de-identified clinical sequencing data to prioritized, reviewable results.

The process is designed to be transparent and reproducible, with careful quality control and project-specific interpretation.

Project intake

We review the sequencing type, sample number, phenotype or clinical context, data format, and requested deliverables.

Data processing

Raw data are quality-checked, aligned, processed, and summarized using appropriate references and documented parameters.

Variant analysis

Variants are called, filtered, annotated, and prioritized according to the project objective and available metadata.

Interpretation support

Candidate findings are connected to genes, pathways, disease context, oncology knowledge, or research hypotheses.

Delivery

You receive QC reports, tables, prioritized results, reproducible scripts, methods support, and optional report narratives.

AI for clinical genomics

AI-assisted interpretation without replacing scientific or clinical review.

SciBerg can integrate AI into clinical bioinformatics workflows for faster evidence organization, literature-context summaries, automated reporting, and internal knowledge management.

Literature and evidence extraction

Summarize gene, variant, pathway, druggability, or disease-context evidence into reviewable working documents.

Phenotype-to-gene support

Use structured phenotype and clinical-context information to support candidate-gene prioritization workflows.

Automated report drafting

Create standardized, editable report drafts for recurring analysis types, always subject to expert review.

Private knowledge systems

Build secure internal systems to search reports, SOPs, publications, project notes, and curated databases.

Indicative pricing

Transparent starting points for standard clinical bioinformatics projects.

Custom projects are calculated based on scientific effort, complexity, sample number, references, databases, deliverables, and timeline.

Human WGS analysis

Standard bioinformatic analysis of human whole-genome sequencing data.

€780 / sample
  • Quality-control report
  • Variant-oriented data processing
  • Current references and databases
  • Project-specific deliverables

Human exome or panel analysis

Standard bioinformatic analysis of human exome or panel sequencing data.

€540 / sample
  • Quality-control report
  • Exome or panel-oriented analysis
  • Current references and databases
  • Project-specific deliverables

Rates indicated above do not include VAT. Custom project pricing may be calculated based on senior scientist effort and project complexity.

Important project requirements

Clinical bioinformatics requires data context and responsible review.

De-identified clinical information

Clinical-context interpretation requires relevant, de-identified phenotype or clinical information supplied by the client.

  • Phenotype or diagnosis context
  • Sequencing design and metadata
  • Family or tumour-normal status when relevant

Current references and databases

Clinical genomics depends on up-to-date references, annotations, gene panels, and disease or oncology knowledge resources.

  • Documented references
  • Project-specific databases
  • Versioned tools and parameters

Scientific support, not standalone diagnosis

Bioinformatics results support qualified clinical or scientific decision-making and should be reviewed in the appropriate professional context.

  • Expert review recommended
  • Use within local regulatory context
  • Human oversight for AI-supported output
Request a quote

Send a short description of your clinical genomics project.

After evaluating your request, SciBerg can offer an initial free-of-charge consultation to discuss deliverables, timeline, data requirements, and pricing.

Useful details: NGS type, sample number, data format, read depth, organism, phenotype or clinical context, and expected deliverables
Typical inputs: FASTQ, BAM, VCF, metadata tables, and de-identified clinical information