Genome-wide association studies for complex traits: consensus, uncertainty and challenges
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 …
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 …
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 …
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 …
single nucleotide polymorphism ascertainment and low linkage disequilibrium have recently …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
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 …
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 …
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
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 …
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 …
common human diseases. A well-known problem with such studies is the presence of …
Genomic approaches for understanding the genetics of complex disease
There are thousands of known associations between genetic variants and complex human
phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those …
phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those …