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