In a recent Essay in Cell, McClellan and King argue that genomic resequencing rather than genome-wide association studies (GWAS) will be necessary to understand the genetic basis of common disease (McClellan and King, 2010). Like the authors, we too are excited about the potential for emerging sequencing technologies to facilitate discoveries that explain the missing heritability of common dise...

Submitted by admin on Mon, 09/08/2014 4:09pm Title Problems with genome-wide association studies. Publication Type Journal Article Year of Publication 2007 Authors Shriner, D, Vaughan, LK, Padilla, MA, Tiwari, HK Journal Science Volume 316 Issue 5833 Pagination 1840-2 Date Published 2007 Jun 29 ISSN 1095-9203

There have been nearly 400 genome-wide association studies (GWAS) published since 2005. The GWAS approach has been exceptionally successful in identifying common genetic variants that predispose to a variety of complex human diseases and biochemical and anthropometric traits. Although this approach is relatively new, there are many excellent reviews of different aspects of the GWAS method. Here...

Genome-wide association studies provide a new and powerful approach to investigate the effect of inherited genetic variation on the risk of human disease. These studies rely on high throughput DNA microarray technology to genotype hundreds of thousands of genetic variants across the human genome. The first genome-wide association studies have identified previously unknown genetic risk factors t...

The paramount importance of replicating associations is well recognized in the genomewide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine separately the results of primary studies and of the follow-up studies. Informally, reporting the two separate meta-analyses, that of the primary studies and follow-u...

MOTIVATION As genomics moves into the clinic, there has been much interest in using this medical data for research. At the same time the use of such data raises many privacy concerns. These circumstances have led to the development of various methods to perform genome-wide association studies (GWAS) on patient records while ensuring privacy. In particular, there has been growing interest in app...

Individual genome-wide association studies have only limited power to find novel loci underlying complex traits and common diseases. With relatively modest sample and effect sizes, a true association between genotype and phenotype may never meet genome-wide statistical significance (P < 5 x 10(-8)) in a single study. Through meta-analysis, novel susceptibility loci can be discovered by effectiv...

The genetic basis for some human diseases, in which one or a few genome regions increase the probability of acquiring the disease, is fairly well understood. For example, the risk for cystic fibrosis is linked to particular genomic regions. Identifying the genetic basis of more common diseases such as diabetes has proven to be more difficult, because many genome regions apparently are involved,...

Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWAS in common neurological diseases, including Stroke, Alzheimer's disease, Parkinson's disease, epilepsy, multiple sclerosis, migraine, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, restless leg...