Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …

Colocalization of GWAS and eQTL signals detects target genes

F Hormozdiari, M Van De Bunt, AV Segre, X Li… - The American Journal of …, 2016 - cell.com
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …

Insights into type 1 diabetes provided by genetic analyses

G Morahan - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
Insights into type 1 diabetes provided by genetic analyses : Current Opinion in Endocrinology,
Diabetes and Obesity Insights into type 1 diabetes provided by genetic analyses : Current …

Widespread allelic heterogeneity in complex traits

F Hormozdiari, A Zhu, G Kichaev, CJT Ju… - The American Journal of …, 2017 - cell.com
Recent successes in genome-wide association studies (GWASs) make it possible to
address important questions about the genetic architecture of complex traits, such as allele …

Multiple testing correction in linear mixed models

JWJ Joo, F Hormozdiari, B Han, E Eskin - Genome biology, 2016 - Springer
Background Multiple hypothesis testing is a major issue in genome-wide association studies
(GWAS), which often analyze millions of markers. The permutation test is considered to be …

Identification, deployment, and transferability of quantitative trait loci from genome-wide association studies in plants

M Mohammadi, A Xavier, T Beckett, S Beyer, L Chen… - Current Plant …, 2020 - Elsevier
Over the past decade, the use of genome-wide association studies (GWAS) in plant
breeding for discovery and validation of quantitative trait loci (QTL) has vastly increased …

DISSCO: direct imputation of summary statistics allowing covariates

Z Xu, Q Duan, S Yan, W Chen, M Li, E Lange… - …, 2015 - academic.oup.com
Background: Imputation of individual level genotypes at untyped markers using an external
reference panel of genotyped or sequenced individuals has become standard practice in …

[HTML][HTML] Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort

CL Simpson, R Wojciechowski, SS Yee, P Soni… - Molecular …, 2013 - ncbi.nlm.nih.gov
Purpose Refractive error is a complex trait with multiple genetic and environmental risk
factors, and is the most common cause of preventable blindness worldwide. The common …

Estimating colocalization probability from limited summary statistics

EA King, F Dunbar, JW Davis, JF Degner - BMC bioinformatics, 2021 - Springer
Background Colocalization is a statistical method used in genetics to determine whether the
same variant is causal for multiple phenotypes, for example, complex traits and gene …

Enhanced methods to detect haplotypic effects on gene expression

R Brown, G Kichaev, N Mancuso, J Boocock… - …, 2017 - academic.oup.com
Motivation Expression quantitative trait loci (eQTLs), genetic variants associated with gene
expression levels, are identified in eQTL mapping studies. Such studies typically test for an …