Genome-wide association studies for complex traits: consensus, uncertainty and challenges

MI McCarthy, GR Abecasis, LR Cardon… - Nature reviews …, 2008 - nature.com
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …

Genomewide association studies—illuminating biologic pathways

JN Hirschhorn - New England journal of medicine, 2009 - Mass Medical Soc
Genomewide Association Studies — Illuminating Biologic Pathways | New England Journal of
Medicine Skip to main content The New England Journal of Medicine homepage Advanced …

Detecting gene–gene interactions that underlie human diseases

HJ Cordell - Nature Reviews Genetics, 2009 - nature.com
Following the identification of several disease-associated polymorphisms by genome-wide
association (GWA) analysis, interest is now focusing on the detection of effects that, owing to …

The complex interplay among factors that influence allelic association

KT Zondervan, LR Cardon - Nature Reviews Genetics, 2004 - nature.com
Small effect sizes, common-disease/common-variant versus rare variant influences, biased
single nucleotide polymorphism ascertainment and low linkage disequilibrium have recently …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Genome-wide strategies for detecting multiple loci that influence complex diseases

J Marchini, P Donnelly, LR Cardon - Nature genetics, 2005 - nature.com
After nearly 10 years of intense academic and commercial research effort, large genome-
wide association studies for common complex diseases are now imminent. Although these …

Power of association and linkage tests when the disease alleles are unobserved

IP Tu, AS Whittemore - The American Journal of Human Genetics, 1999 - cell.com
Genomewide association studies have been advocated as a promising alternative to
genomewide linkage scans for detection of small-effect genes in complex diseases …

Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits

N Mancuso, H Shi, P Goddard, G Kichaev… - The American Journal of …, 2017 - cell.com
Although genome-wide association studies (GWASs) have identified thousands of risk loci
for many complex traits and diseases, the causal variants and genes at these loci remain …

The effects of human population structure on large genetic association studies

J Marchini, LR Cardon, MS Phillips, P Donnelly - Nature genetics, 2004 - nature.com
Large-scale association studies hold substantial promise for unraveling the genetic basis of
common human diseases. A well-known problem with such studies is the presence of …

Genomic approaches for understanding the genetics of complex disease

WL Lowe, TE Reddy - Genome research, 2015 - genome.cshlp.org
There are thousands of known associations between genetic variants and complex human
phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those …