Peter Donnelly
A5077722090- Genetic Associations and Epidemiology
- Stochastic processes and statistical mechanics
- Genetic Mapping and Diversity in Plants and Animals
- Evolution and Genetic Dynamics
- Genetic and phenotypic traits in livestock
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Bayesian Methods and Mixture Models
- Genetic diversity and population structure
- Forensic and Genetic Research
- Nutrition, Genetics, and Disease
- RNA modifications and cancer
- Systemic Lupus Erythematosus Research
- DNA Repair Mechanisms
- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- Antifungal resistance and susceptibility
- Gene expression and cancer classification
- Mathematical and Theoretical Epidemiology and Ecology Models
- Fungal Infections and Studies
- RNA and protein synthesis mechanisms
- Health Systems, Economic Evaluations, Quality of Life
- Cancer Genomics and Diagnostics
- Spondyloarthritis Studies and Treatments
Genomics England
2024
Genomics (United Kingdom)
2009-2024
University of Oxford
2014-2023
Centre for Human Genetics
2014-2023
Royal Hospital for Children
2015-2023
NHS Greater Glasgow and Clyde
2023
Northern Devon Healthcare NHS Trust
2023
Radboud University Nijmegen
1992-2022
Radboud University Medical Center
2003-2022
Queen's University Belfast
2022
Abstract We describe a model-based clustering method for using multilocus genotype data to infer population structure and assign individuals populations. assume model in which there are K populations (where may be unknown), each of is characterized by set allele frequencies at locus. Individuals the sample assigned (probabilistically) populations, or jointly two more if their genotypes indicate that they admixed. Our does not particular mutation process, it can applied most commonly used...
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing diverse individuals from multiple populations. Here we report completion the project, having reconstructed genomes 2,504 26 populations using combination low-coverage sequencing, deep exome and dense microarray genotyping. We characterized broad spectrum variation, in total over 88 million variants (84.7 single nucleotide polymorphisms (SNPs), 3.6...
Abstract The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 69 at recruitment. open resource unique in its size scope. A rich variety of health-related information available each participant, including biological measurements, lifestyle indicators, biomarkers blood urine, imaging body brain. Follow-up provided by linking health medical records. Genome-wide...
The goal of the International HapMap Project is to determine common patterns DNA sequence variation in human genome and make this information freely available public domain. An international consortium developing a map these across by determining genotypes one million or more variants, their frequencies degree association between them, samples from populations with ancestry parts Africa, Asia Europe. will allow discovery variants that affect disease, facilitate development diagnostic tools,...
Genotype imputation methods are now being widely used in the analysis of genome-wide association studies. Most analyses to date have HapMap as a reference dataset, but new panels (such controls genotyped on multiple SNP chips and densely typed samples from 1,000 Genomes Project) will soon allow broader range SNPs be imputed with higher accuracy, thereby increasing power. We describe genotype method (IMPUTE version 2) that is designed address challenges presented by these datasets. The main...
Genetic maps, which document the way in recombination rates vary over a genome, are an essential tool for many genetic analyses. We present high-resolution map of human based on statistical analyses variation data, and identify more than 25,000 hotspots, together with motifs sequence contexts that play role hotspot activity. Differences between behavior large (megabase) small (kilobase) scales lead us to suggest two-stage model hotspots stochastic features, within framework large-scale constrained.
The nature and scale of recombination rate variation are largely unknown for most species. In humans, pedigree analysis has documented at the chromosomal level, sperm studies have identified specific hotspots in which crossing-over events cluster. To address whether this picture is representative genome as a whole, we developed validated method estimating rates from patterns genetic variation. From extensive single-nucleotide polymorphism surveys European African populations, find evidence...
The paper is concerned with methods for the estimation of coalescence time (time since most recent common ancestor) a sample intraspecies DNA sequences. take advantage prior knowledge population demography, in addition to molecular data. While some theoretical results are presented, central focus on computational methods. These easy implement, and, explicit formulae tend be either unavailable or unilluminating, they also more useful and informative applications. Extensions presented that...
Abstract The UK Biobank project is a large prospective cohort study of ~500,000 individuals from across the United Kingdom, aged between 40-69 at recruitment. A rich variety phenotypic and health-related information available on each participant, making resource unprecedented in its size scope. Here we describe genome-wide genotype data (~805,000 markers) collected all quality control procedures. Genotype this scale offers novel opportunities for assessing issues, although wide range...