We are interested in developing statistical methods, theory and computational tools and software that solve problems, and help others make discoveries, in the areas of human disease genetics and population genetics.

Some current and recent research topics include

  • Analysis of next-generation sequencing data, specifically analysis of the Haplotype Reference Consortium (HRC), which is co-led by Prof Marchini, and the 100,000 Genomes Project.
  • Analysis methods for the UK Biobank Project (see our document detailing analysis of the first ~150,000 samples)
  • Methods for the analysis of multiple phenotypes (see the PHENIX software)
  • Methods for data integration.
  • Imaging genetics in collaboration with The Oxford Centre for Functional Magnetic Resonance Imaging of the Brain (FMRIB).
  • SNP genotype calling
  • CNV detection and genotyping
  • Methods for detecting gene-gene interactions
  • Haplotype inference (see the SHAPEIT software)
  • Genotype imputation (see the IMPUTE software)
  • Coalescent based approaches for detection and fine-mapping of disease genes in association studies
  • Bayesian modelling of genotype-phenotype association (see the SNPTEST software)
  • Methods for detection of population structure from genetic datasets

Prof Marchini currently holds an ERC Consolidator Award and a Wellcome Trust Collaborator Award that funds some the research listed above.