Genome-wide gene and pathway analysis

L Luo, G Peng, Y Zhu, H Dong, CI Amos… - European Journal of …, 2010 - nature.com
Current GWAS have primarily focused on testing association of single SNPs. To only test for
association of single SNPs has limited utility and is insufficient to dissect the complex …

Adjusting for heritable covariates can bias effect estimates in genome-wide association studies

H Aschard, BJ Vilhjálmsson, AD Joshi, AL Price… - The American Journal of …, 2015 - cell.com
In recent years, a number of large-scale genome-wide association studies have been
published for human traits adjusted for other correlated traits with a genetic basis. In most …

Gene–environment-wide association studies: emerging approaches

D Thomas - Nature reviews genetics, 2010 - nature.com
Despite the yield of recent genome-wide association (GWA) studies, the identified variants
explain only a small proportion of the heritability of most complex diseases. This …

Genome-wide association studies in diverse populations

NA Rosenberg, L Huang, EM Jewett… - Nature Reviews …, 2010 - nature.com
Genome-wide association (GWA) studies have identified a large number of SNPs
associated with disease phenotypes. As most GWA studies have been performed in …

A plethora of pleiotropy across complex traits

PM Visscher, J Yang - Nature genetics, 2016 - nature.com
A new analysis has identified hundreds of loci that are associated with multiple traits or
diseases by comparing genome-wide association study (GWAS) data for 42 complex traits …

CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies

J Wang, D Huang, Y Zhou, H Yao, H Liu… - Nucleic acids …, 2020 - academic.oup.com
Genome-wide association studies (GWASs) have revolutionized the field of complex trait
genetics over the past decade, yet for most of the significant genotype-phenotype …

Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies

S Van Der Sluis, M Verhage, D Posthuma, CV Dolan - PloS one, 2010 - journals.plos.org
Background The variance explained by genetic variants as identified in (genome-wide)
genetic association studies is typically small compared to family-based heritability estimates …

Biological interpretation of genome-wide association studies using predicted gene functions

TH Pers, JM Karjalainen, Y Chan, HJ Westra… - Nature …, 2015 - nature.com
The main challenge for gaining biological insights from genetic associations is identifying
which genes and pathways explain the associations. Here we present DEPICT, an …

SNP discovery in associating genetic variation with human disease phenotypes

Y Suh, J Vijg - … Research/Fundamental and Molecular Mechanisms of …, 2005 - Elsevier
With the completion of the human genome project, attention is now rapidly shifting towards
the study of individual genetic variation. The most abundant source of genetic variation in …

Validating, augmenting and refining genome-wide association signals

JPA Ioannidis, G Thomas, MJ Daly - Nature Reviews Genetics, 2009 - nature.com
Studies using genome-wide platforms have yielded an unprecedented number of promising
signals of association between genomic variants and human traits. This Review addresses …