Genome Science
Human Genome Architecture
Structural organisation of the genome, from chromatin domains to chromosome-scale assemblies.
Research
Research areas
Eighteen areas structure research at Genetics University. Each describes its questions and methods; individual projects and results are published only after academic review.
Clinical Genetics
Rare Disease Genomics
Diagnostic genome and exome analysis for patients with suspected monogenic conditions.
Clinical Genetics
Cancer Genomics
Somatic mutation landscapes, tumour evolution and germline predisposition.
Computational Biology
Statistical Genetics
Association methods, heritability estimation and polygenic architecture.
Genome Science
Functional Genomics
Perturbation screens and assays that connect sequence variation to molecular function.
Genome Science
Epigenetics & Chromatin
DNA methylation, histone modification and regulatory memory across tissues.
Genome Science
Population Genomics
Human genetic diversity, demographic history and reference representation.
Clinical Genetics
Pharmacogenomics
Genotype-guided prescribing and drug response variability.
Clinical Genetics
Variant Interpretation
Evidence frameworks for classifying sequence variants in diagnostic settings.
Genome Science
Single-Cell Genomics
Cell-resolved transcriptomes, epigenomes and multi-omic atlases.
Genome Science
Long-Read Sequencing
Structural variation, repeat expansions and phased assemblies.
Clinical Genetics
Prenatal & Reproductive Genetics
Screening, diagnosis and counselling across the reproductive pathway.
Clinical Genetics
Neurogenetics
Genetic contributions to neurological and neurodevelopmental conditions.
Genome Science
Immunogenomics
HLA diversity, immune repertoires and inborn errors of immunity.
Computational Biology
Machine Learning for Genomics
Predictive models for regulatory effect, protein structure and clinical phenotype.
Computational Biology
Genomic Data Infrastructure
Standards, pipelines and federated access for large-scale genomic data.
Genetics & Society
Ethics, Law & Policy
Consent, data governance and the regulation of genetic information.
Genetics & Society
Genomic Literacy & Public Engagement
How genetic findings are communicated, understood and acted upon.