The department’s scientific identity rests on two programmes of equal standing. They share a methodological and technological layer, and the same commitment to work that stays close to clinical practice.
From inherited cancer susceptibility to tumor genomics, liquid biopsy and precision oncology.
From deep phenotyping and variant interpretation to molecular diagnosis and discovery across rare genetic disorders.
The cancer programme spans the full germline-to-somatic continuum: inherited predisposition and its interpretation in families, molecular profiling of tumours to inform treatment, plasma-based approaches for minimally invasive assessment, and the molecular genomics of myeloid and lymphoid neoplasms.
Germline predisposition, multigene testing, population-specific variants, penetrance and risk interpretation, and genetic counselling.
4 publications in the database
Somatic molecular profiling, clinically actionable alterations, tissue-based testing and translational biomarkers.
2 publications in the database
Plasma ctDNA/cfDNA profiling, targeted digital PCR and translational assay development.
2 publications in the database
Myeloid and lymphoid molecular genomics, risk stratification, clonality, fusions and targeted biomarkers.
2 publications in the database
The rare-disease programme combines detailed clinical phenotyping with genome-scale testing and careful variant interpretation. Its published output is concentrated in neurodevelopmental, syndromic, neuromuscular, metabolic and structural-variation disorders, including phenotype expansion and novel gene–disease evidence.
Epileptic encephalopathies, intellectual disability, movement disorders, ataxia, spasticity and related genomic disorders.
8 publications in the database
Dysmorphology, phenotype expansion, novel and rare syndromes, multilocus diagnoses and unusual inheritance.
19 publications in the database
Neuromuscular disease, skeletal dysplasia, growth-plate disorders and structural alleles.
8 publications in the database
Inherited metabolic and mitochondrial disorders and selected cardiovascular genetic disorders.
10 publications in the database
Copy-number variants, high-resolution microarray, structural variation, multilocus genomic architecture and prenatal cytogenomics.
4 publications in the database
Both flagship programmes depend on the same underlying methods: rigorous variant interpretation informed by population data, and a genomic technology base that can be validated and translated into diagnostic practice.
A shared methodological and technological layer — not a third disease programme.
Shared interpretation methodology across both disease pillars, including classification frameworks, founder alleles and population-specific variant spectra.
3 publications in the database
Shared technological infrastructure and assay translation, from sequencing and array platforms to targeted orthogonal methods.
0 publications in the database