Rare Disease Genomics
Finding answers for the undiagnosed — prioritising causal variants in rare and Mendelian disease with phenotype-driven analysis.
What this area is.
For families on a diagnostic odyssey, the causal variant is usually rare, often de novo or recessive, and hidden among thousands of benign ones. We use trio and family WGS/WES with phenotype-aware prioritisation to surface it.
Variants are classified against ACMG/AMP criteria and matched to phenotype with HPO terms, turning a vast variant table into a short, defensible candidate list.
Tools & technologies
What we do.
Core methods we apply in rare disease genomics.
Trio & family analysis
Joint analysis of probands and relatives to find de novo and inherited causes.
ACMG/AMP classification
Systematic, criterion-based variant interpretation.
Phenotype-driven ranking
HPO-based prioritisation that matches genotype to clinical features.
De novo & compound-het
Inheritance-aware models for dominant and recessive disease.
Repeat-expansion analysis
Detecting the expansions behind ~60 known disorders.
Predisposition genes
Identifying germline risk in familial cancer and beyond.
From data to insight.
How a rare disease genomics project flows end to end.
Family WGS/WES
proband + relatives
Joint calling
trio genotypes
Inheritance
de novo · recessive
Phenotype
HPO matching
Classify
ACMG / AMP
Diagnose
ranked candidates
Publication-grade figures.
Interactive, live-rendered visualisations used in rare disease genomics.
Where we go deep.
The undiagnosed
Re-analysis pipelines that revisit negative cases as knowledge grows.
Familial cancer predisposition
Prioritising germline risk genes by whole-genome sequencing.
Repeat-expansion disorders
Detection workflows for an under-served variant class.
Questions we answer.
A few of the things people ask about rare disease genomics — and our short answers. Ask CGB-AI for more.
Why analyse the whole family?
Trio data reveals de novo events and resolves inheritance, dramatically narrowing the candidate list.
What if the case is unsolved?
Periodic re-analysis against updated databases and gene–disease knowledge solves many initially negative cases.
Publications in Rare Disease Genomics.
Drawn from our full record of 173 papers, filtered to this area.
Start a rare disease genomics project.
Tell us the biological question and the data you have — we will map out an approach.