Bioinformatics challenges in genome-wide association studies (GWAS)
Genome-wide association studies (GWAS) are a powerful tool for investigators to examine
the human genome to detect genetic risk factors, reveal the genetic architecture of diseases …
the human genome to detect genetic risk factors, reveal the genetic architecture of diseases …
The UK Biobank: A shining example of genome-wide association study science with the power to detect the murky complications of real-world epidemiology
VY Tan, NJ Timpson - Annual review of genomics and human …, 2022 - annualreviews.org
Genome-wide association studies (GWASs) have successfully identified thousands of
genetic variants that are reliably associated with human traits. Although GWASs are …
genetic variants that are reliably associated with human traits. Although GWASs are …
Assessing the function of genetic variants in candidate gene association studies
TR Rebbeck, M Spitz, X Wu - Nature Reviews Genetics, 2004 - nature.com
Abstract Knowledge of inherited genetic variation has a fundamental impact on
understanding human disease. Unfortunately, our understanding of the functional …
understanding human disease. Unfortunately, our understanding of the functional …
Genome-wide association studies: results from the first few years and potential implications for clinical medicine
JN Hirschhorn, ZKZ Gajdos - Annual review of medicine, 2011 - annualreviews.org
Most common diseases and quantitative traits are heritable: determined in part by genetic
variation within the population. The inheritance is typically polygenic in that combined effects …
variation within the population. The inheritance is typically polygenic in that combined effects …
Missing heritability in genome-wide association study research
P Vineis, N Pearce - Nature Reviews Genetics, 2010 - nature.com
Much of the literature on genome-wide association (GWA) studies is based on the premise
that an important proportion of common diseases is heritable, and that this proportion is …
that an important proportion of common diseases is heritable, and that this proportion is …
Introduction to genetic association studies
Genetic association studies are used to find candidate genes or genome regions that
contribute to a specific disease by testing for a correlation between disease status and …
contribute to a specific disease by testing for a correlation between disease status and …
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases
In most complex diseases, much of the heritability remains unaccounted for by common
variants. It has been postulated that lower-frequency variants contribute to the remaining …
variants. It has been postulated that lower-frequency variants contribute to the remaining …
Family-based genome-wide association studies
In the last 2 years, the effort to identify genes affecting common diseases and complex traits
has been accelerated through the use of genome-wide association studies (GWAS). The …
has been accelerated through the use of genome-wide association studies (GWAS). The …
Interpretation of association signals and identification of causal variants from genome-wide association studies
K Wang, SP Dickson, CA Stolle, ID Krantz… - The American Journal of …, 2010 - cell.com
GWAS have been successful in identifying disease susceptibility loci, but it remains a
challenge to pinpoint the causal variants in subsequent fine-mapping studies. A …
challenge to pinpoint the causal variants in subsequent fine-mapping studies. A …
A gene-centric approach to genome-wide association studies
E Jorgenson, JS Witte - Nature Reviews Genetics, 2006 - nature.com
Genic variants are more likely to alter gene function and affect disease risk than those that
occur outside genes. Variants in genes, however, might not be sufficiently covered by the …
occur outside genes. Variants in genes, however, might not be sufficiently covered by the …