Professor of Statistical Genomics
Fellow at Somerville College
I studied Mathematics and Statistics at Exeter University from 1991-1994. I then trained as a secondary school Mathematics teacher for 1 year before working as a VSO volunteer in Tanzania for three years teaching A-level Mathematics. I came to Oxford in 1998 to do a Dphil on the statistical analysis of fMRI brain images supervised by Professor Brian Ripley. In 2002 I started to work in the area of statistical genetics as a postdoc supervised by Professor Peter Donnelly and Professor Lon Cardon. I became a University Lecturer in Statistical Genomics in September 2005. In 2012 I was awarded a Philip Leverhulme Research Prize. In 2013 I was awarded the title of Professor of Statistical Genomics. I am a Tutorial Fellow in Statistics at Somerville College. I currently hold an ERC Consolidator Award and a Wellcome Trust Collaborator Award.
- Statistical Genetics
- Genome-wide Association Studies
- Multi-Omic Data Integration
- Computationally Intensive Statistics
- Bayesian Statistics
- Image Analysis
The main focus of my research is the development of statistical methods for the localization and detection of disease genes in genome-wide association studies. These studies consist of measurements on thousands of individuals at up to 1 million locations throughout the genome. We aim to develop powerful methods that can extract the signal of association but at the same time account for the many confounding factors that affect these studies. Recently this has involved working on genotype inputation and haplotype phase inference, genotype calling algorithms, detection of copy number variants, fine mapping, non-parametric association tests, detection of gene-gene interactions, algorithms for the detection and characterization of population structure, phenotype imputation, multi-phenotype analysis, tensor decomposition and multi-omic data-integration methods.
I have played key roles in several high-profile international collaborative research projects.
- The International HapMap Project
- The Wellcome Trust Case Control Consortium
- The 1000 Genomes Project
- The Haplotype Reference Consortium
I collaborate with the Oxford Centre for Functional Magnetic Resonance Imaging of the Brain on research in the area of imaging-genetics.
- Victoria Hore, Ana Viñuela, Alfonso Buil, Julian Knight, Mark I McCarthy, Kerrin Small, Jonathan Marchini, Tensor decomposition for multi-tissue gene expression experiments, Nature Genetics, 20.1038/ng.3624. [Supplementary material] [Software]
- Jared O’Connell, Kevin Sharp, Nick Shrine, Louise Wain, Ian Hall, Martin Tobin, Jean-François Zagury, Olivier Delaneau, Jonathan Marchini, Haplotype estimation for biobank scale datasets, Nature Genetics, 10.1038/ng.3583.
- Kevin Sharp, Olivier Delaneau, Warren Kretzschmar, Jonathan Marchini, Phasing for medical sequencing using rare variants and large haplotype reference panels, Bioinformatics, doi:10.1093/bioinformatics/btw065.
- Andrew Dahl, Valentina Iotchkova, Amelie Baud, Åsa Johansson, Ulf Gyllensten, Nicole Soranzo, Richard Mott, Andreas Kranis, Jonathan Marchini, A multiple phenotype imputation method for genetic studies, Nature Genetics, doi:10.1038/ng.3513. [R package]
- The Haplotype Reference Consortium, A reference panel of 64,976 haplotypes for genotype imputation, Nature Genetics (in press).