Clinical Genetics
Rare Disease Genomics
Diagnostic genome and exome analysis for patients with suspected monogenic conditions.
Scientific context
Understanding the field
Research focuses on improving diagnostic yield through reanalysis, deep phenotyping and the systematic interpretation of variants of uncertain significance in ultra-rare presentations.
Rare-disease genomics combines phenotype description with genome or exome analysis to investigate suspected inherited conditions. Reanalysis is important because gene–disease knowledge, reference datasets and interpretation standards evolve.
Central questions
- Which variant classes remain difficult to detect or interpret?
- How can phenotype and family data improve prioritisation?
Methodological framework
- Phenotype ontology and pedigree analysis
- Exome, genome and copy-number analysis
- Segregation studies and periodic reinterpretation
Relevance
Scientific and clinical value
Rigorous analysis may shorten diagnostic pathways, support more accurate counselling and identify questions for functional follow-up, while also documenting when no molecular explanation is established.
Limits and responsibility
A genomic result is not automatically a diagnosis. Incomplete penetrance, mosaicism, uncertain variants and unequal ancestry representation require cautious multidisciplinary interpretation and informed consent.
Authoritative resources
Public reference resources
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