Case–control studies of association in structured or admixed populations

JK Pritchard, P Donnelly - Theoretical population biology, 2001 - Elsevier
Case–control tests for association are an important tool for mapping complex-trait genes. But
population structure can invalidate this approach, leading to apparent associations at …

Coalescents and genealogical structure under neutrality

P Donnelly, S Tavare - Annual review of genetics, 1995 - annualreviews.org
Genealogical or coalescent methods have proved very useful in interpreting and
understanding a wide range of population genetic data. Our aim is to illustrate some of the …

Progress and challenges in genome-wide association studies in humans

P Donnelly - Nature, 2008 - nature.com
After more than a decade of hope and hype, researchers are finally making inroads into
understanding the genetic basis of many common human diseases. The use of genome …

Inference of population structure using multilocus genotype data

JK Pritchard, M Stephens, P Donnelly - Genetics, 2000 - academic.oup.com
We describe a model-based clustering method for using multilocus genotype data to infer
population structure and assign individuals to populations. We assume a model in which …

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Meta-Analyses of Glucose and Insulin-related traits … - Nature …, 2012 - nature.com
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes
(T2D), we conducted a meta-analysis of genetic variants on the Metabochip, including …

[PDF][PDF] A new statistical method for haplotype reconstruction from population data

M Stephens, NJ Smith, P Donnelly - The American Journal of Human …, 2001 - cell.com
Current routine genotyping methods typically do not provide haplotype information, which is
essential for many analyses of fine-scale molecular-genetics data. Haplotypes can be …

Transcriptome and genome sequencing uncovers functional variation in humans

T Lappalainen, M Sammeth, MR Friedländer… - Nature, 2013 - nature.com
Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

[HTML][HTML] The UK Biobank resource with deep phenotyping and genomic data

C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
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 …

[HTML][HTML] A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

BN Howie, P Donnelly, J Marchini - PLoS genetics, 2009 - journals.plos.org
Genotype imputation methods are now being widely used in the analysis of genome-wide
association studies. Most imputation analyses to date have used the HapMap as a reference …

[PDF][PDF] A comparison of bayesian methods for haplotype reconstruction from population genotype data

M Stephens, P Donnelly - The American Journal of Human Genetics, 2003 - cell.com
In this report, we compare and contrast three previously published Bayesian methods for
inferring haplotypes from genotype data in a population sample. We review the methods …