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Research projects by domain

Select from the domains and explore our active research projects.

Research projects

A comprehensive catalog of somatic mutations and structural variations in lung cancer and correlation with main clinical characteristics

Analysing the differences between inferred ancestry groups within breast cancer

Validation and Expansion of Synthetic Lethal Cancer Targets Using the Genomics England Dataset

De novo and mendelian inherited causal genetic variations identification for bladder related phenotypes

Predictive modeling of Brain metastases in patients diagnosed with Non-small Cell Lung Cancer using clinical-genomic real-world data

Characterisation of the contribution of genetics in influencing cancer outcomes and treatment response

Assessing the public health impact of endogenous viral elements in the human population

Exploring the role of rare non-coding variation in breast cancer risk

Characterisation of the pan-cancer epigenomic mutational landscape

microRNA-associated variation in rare epilepsies

Analysis of MCPH1 and CSMD1 in the 100,000 genomes cohort

Large-scale functional characterisation of variants observed in patients

Comparative medical genetics to facilitate the interpretation of rare variation

Genetic determinants for healthcare costs - genCOST consortium

G4 quadruplex regions of the first Intron

External validation of a clinical score estimating the pre-test probability of obtaining a molecular diagnosis using massive parallel sequencing data in adults patients with kidney diseases of unknown origin.

Quality Control of somatic calls from whole-genome sequencing

Genotyping MUCs VNTR linked to Ovarian cancer/fertility using Whole Genome Sequencing

Additional Findings Evaluation: health economic analysis

Additional Findings Evaluation: health economic analysis

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