Main interests are statistical and population genetics, statistical pattern recognition and image analysis. Currently working on methods for the detection of the genetic basis of complex diseases in genome-wide association studies and the detection of gene-gene interactions.
- B. Howie, P. Donnelly, J. Marchini (2009) A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies. PLoS Genetics 5(6): e1000529
- C. Spencer, Z. Su, P. Donnelly, J. Marchini (2009) Designing Genome-Wide Association Studies: Sample Size, Power, Imputation, and the Choice of Genotyping Chip. PLoS Genetics 5(5).
- C. Barnes, V. Plagnol, T. Fitzgerald, R. Redon, J. Marchini, D. Clayton, M. Hurles (2009) A robust statistical method for case-control association testing with copy number variation. Nature Genetics Oct;40(10): 1245-52 2007
- J. Marchini, B. Howie, S. Myers, G. McVean and P. Donnelly (2007) A new multipoint method for genome-wide association studies via imputation of genotypes. Nature Genetics 39 : 906-913
- The Wellcome Trust Case Control Consortium (2007) Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447;661-78. PMID: 17554300 DOI: 10.1038/nature05911
- Zeggini et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. Jun 1;316(5829):1336-41. Epub 2007 Apr 26. 2006
- J. Marchini, D. Cutler, N. Patterson, M. Stephens, E. Eskin, E. Halperin, S. Lin, Z.S. Qin, H.M. Munro, G.R. Abecasis, P. Donnelly, and International HapMap Consortium (2006) A Comparison of Phasing Algorithms for Trios and Unrelated Individuals. Amercan Journal of Human Genetics, 78 437-45
- J. Marchini, P. Donnelly and L. R Cardon (2005) Genome-wide strategies for detecting multiple loci influencing complex diseases. Nature Genetics, 37 413-417
- The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320. 2005
- J. Marchini, L. Cardon, M. Phillips, and P. Donnelly (2004) The effects of human population structure on large genetic association studies.
Nature Genetics 36 512 - 517.