Sequencing is now routine in clinical genomics. The real challenge is turning variant files into clear answers for clinical teams. Dr A Deffur offers expert tertiary analysis that links genomic findings to each patient's phenotype, giving clinicians and laboratory scientists results they can act on.

Tertiary analysis and variant interpretation

• Annotation, filtering and classification of variants using current knowledgebases and ACMG/AMP evidence frameworks

• Expert curation of candidate variants, with interpretive comments written for clinicians: phenotype correlation, differential diagnosis, therapeutic implications and suggested confirmatory testing

• Support for multidisciplinary meetings and structured sign-off

HPO term-driven prioritisation

• Structured capture of clinical features as Human Phenotype Ontology (HPO) terms

• Phenotype-driven ranking of candidate genes and variants, so the most relevant findings come first

• Less time spent on manual review, a higher diagnostic yield and transparent reasoning behind each prioritised result

Integration into existing workflows

• Services fit around your current sequencing pipelines, laboratory information systems and reporting processes, with no need to replace infrastructure

• Customisable report templates matched to your clinical and laboratory requirements

• Documented, reproducible methods to support accreditation and quality assurance

Why work with Dr A Deffur?

A clinician-led service, grounded in internal medicine, infectious diseases, genomics and digital health. The focus throughout is on reducing diagnostic uncertainty and shortening time to answers.

Next step

Contact Dr A Deffur to discuss your current workflow and how tertiary analysis and phenotype-driven prioritisation can support your service.