Genomic analysis

WES, CES, Trio-WES and cancer panel analysis.

We have interpreted the genomic data of more than 3,000 patients. From sequencing-data analysis to variant interpretation and the clinical report, every step happens in one team, on one platform.

Which analysis, when?Contact us

Which analysis, when?

The right analysis depends on the clinical question. The table below is a general guide; test selection is always made with the physician’s assessment.

AnalysisScopeBest suited forStrength
WESProtein-coding regions of about 20,000 genesBroad differential diagnosis; undiagnosed, multisystem presentationsWidest exome coverage
CESGenes with known disease associationsWhen the clinical picture points to a specific disease groupMore targeted interpretation, fewer uncertain findings
Trio-WESExomes of the patient and both parentsNeurodevelopmental disorders, congenital anomalies, suspected de novoDe novo and inheritance-pattern analysis
Cancer panelsCancer-related gene panelsOncogenetic assessmentTargeted, high-depth reading
WES

Whole-exome analysis

Whole-exome sequencing reads the protein-coding regions of the genome: the exons of about 20,000 genes. Because most variants that cause rare disease lie in these regions, it is a powerful first step for undiagnosed and multisystem presentations.

Variants are annotated with population frequency and functional-impact predictions, prioritised against the patient’s HPO phenotype terms and classified according to ACMG/AMP criteria. Copy-number variants (CNVs) are assessed separately against a panel-of-normals reference.

  • ACMG/AMP variant classification
  • HPO-driven phenotype prioritisation
  • CNV against a panel of normals
  • Separate assessment of secondary findings
CES

Clinical-exome analysis

The clinical exome focuses on genes with known disease associations. When the clinical picture points to a specific disease group, it offers more targeted interpretation and fewer variants of uncertain significance.

Interpretation and reporting follow the same rigour, on the same platform, as whole-exome analysis.

  • Clinically associated gene set
  • ACMG/AMP variant classification
  • Targeted clinical report
Trio-WES

Patient and both parents, together

In a trio analysis, the patient’s exome is analysed together with the mother’s and father’s. De novo variants are detected directly, and compound heterozygosity and other inheritance patterns are confirmed against parental genotypes. It raises the diagnostic yield compared with a singleton exome and reduces interpretive uncertainty.

On our platform, parental genotypes are never used until they are validated; conflicting genotypes for the same variant are rejected.

  • De novo variant detection
  • Compound heterozygosity analysis
  • Segregation and inheritance modelling
Oncogenetics

Cancer panel analysis

Bioinformatic analysis and variant interpretation of cancer-related gene panels. Targeted panel data is read at high depth, variants are assessed with their evidence levels, and results are delivered ready for the clinical report.

  • Targeted panel analysis
  • Evidence-based variant interpretation
  • Clinical reporting

From data to report.

Every analysis runs in a traceable pipeline, recorded with its job ID and input digests.

  1. Data intake and quality control

    GRCh38 verification

    Sequencing data is received and the genome build verified. Data of uncertain build is never silently converted.

  2. Alignment and variant calling

    Standard tools

    Reads are aligned to the reference genome and variants called with quality metrics.

  3. Annotation

    Population frequency, functional prediction

    Each variant is enriched with frequency and functional-impact information.

  4. Phenotype-driven prioritisation

    HPO

    The patient’s clinical features are recorded as HPO terms; variants are ranked by how well they fit.

  5. Classification and expert review

    ACMG/AMP

    Candidate variants are classified with ACMG/AMP criteria and interpreted by our expert team.

  6. Clinical report

    For the physician

    Findings are turned into a clinical report with their classes and evidence.

From genomic data to the prescription.

We bring the same genomic interpretation experience to prescribing through our own 67-locus pharmacogenomic system.

Our pharmacogenomic system