Rare and common variants: twenty arguments

G Gibson - Nature Reviews Genetics, 2012 - nature.com
Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

Genome-wide association studies: potential next steps on a genetic journey

MI McCarthy, JN Hirschhorn - Human molecular genetics, 2008 - academic.oup.com
Genome-wide association studies have successfully identified numerous loci at which
common variants influence disease risk or quantitative traits. Despite these successes, the …

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

KE Lohmueller, CL Pearce, M Pike, ES Lander… - Nature …, 2003 - nature.com
Association studies offer a potentially powerful approach to identify genetic variants that
influence susceptibility to common disease 1, 2, 3, 4, but are plagued by the impression that …

Genome-wide association studies for common diseases and complex traits

JN Hirschhorn, MJ Daly - Nature reviews genetics, 2005 - nature.com
Genetic factors strongly affect susceptibility to common diseases and also influence disease-
related quantitative traits. Identifying the relevant genes has been difficult, in part because …

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 …

Common genetic variation and human traits

DB Goldstein - New England journal of medicine, 2009 - Mass Medical Soc
Common Genetic Variation and Human Traits | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

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 …

[HTML][HTML] What can genome-wide association studies tell us about the genetics of common disease?

MM Iles - PLoS genetics, 2008 - journals.plos.org
The success of genome-wide association studies relies on much of the risk of common
diseases being due to common genetic variants; but evidence for this is inconclusive. The …

How many genes underlie the occurrence of common complex diseases in the population?

Q Yang, MJ Khoury, JM Friedman, J Little… - International journal …, 2005 - academic.oup.com
Background Most common human diseases are due to complex interactions among multiple
genetic variants and environmental risk factors. There is debate over whether variants of a …

Replication validity of genetic association studies

J Ioannidis, EE Ntzani, TA Trikalinos… - Nature …, 2001 - nature.com
The rapid growth of human genetics creates countless opportunities for studies of disease
association. Given the number of potentially identifiable genetic markers and the multitude of …