Meta-analysis methods for genome-wide association studies and beyond

E Evangelou, JPA Ioannidis - Nature Reviews Genetics, 2013 - nature.com
Meta-analysis of genome-wide association studies (GWASs) has become a popular method
for discovering genetic risk variants. Here, we overview both widely applied and newer …

Genomewide association studies and assessment of the risk of disease

TA Manolio - New England journal of medicine, 2010 - Mass Medical Soc
Over the past 5 years, genomewide association studies have yielded a wealth of insight into
genes and chromosomal loci that contribute to susceptibility to disease. This article, the …

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic …

S Cheng, Z Xu, S Bian, X Chen, Y Shi, Y Li, Y Duan… - Cell Discovery, 2023 - nature.com
Ischemic stroke is a leading cause of global mortality and long-term disability. However,
there is a paucity of whole-genome sequencing studies on ischemic stroke, resulting in …

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

A Gusev, SH Lee, G Trynka, H Finucane… - The American Journal of …, 2014 - cell.com
Regulatory and coding variants are known to be enriched with associations identified by
genome-wide association studies (GWASs) of complex disease, but their contributions to …

Estimating individual admixture proportions from next generation sequencing data

L Skotte, TS Korneliussen, A Albrechtsen - Genetics, 2013 - academic.oup.com
Inference of population structure and individual ancestry is important both for population
genetics and for association studies. With next generation sequencing technologies it is …

Data quality control in genetic case-control association studies

CA Anderson, FH Pettersson, GM Clarke, LR Cardon… - Nature protocols, 2010 - nature.com
This protocol details the steps for data quality assessment and control that are typically
carried out during case-control association studies. The steps described involve the …

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 …

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

D Harold, R Abraham, P Hollingworth, R Sims… - Nature …, 2009 - nature.com
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease
(AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 …

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

G Trynka, KA Hunt, NA Bockett, J Romanos, V Mistry… - Nature …, 2011 - nature.com
Using variants from the 1000 Genomes Project pilot European CEU dataset and data from
additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously …

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

JC Lambert, S Heath, G Even, D Campion, K Sleegers… - Nature …, 2009 - nature.com
The gene encoding apolipoprotein E (APOE) on chromosome 19 is the only confirmed
susceptibility locus for late-onset Alzheimer's disease. To identify other risk loci, we …