To search the entire human genome for association is a novel and promising approach to unravelling the genetic basis of complex genetic diseases. In these genome-wide association studies (GWAs), several hundreds of thousands of single nucleotide polymorphisms (SNPs) are analyzed at the same time, posing substantial biostatistical and computational challenges. In this paper, we discuss a number ...

Genome-wide association is a powerful tool for the identification of genes that underlie common diseases. Genome-wide association studies generate billions of genotypes and pose significant computational challenges for most users including limited computer memory. We applied a recently developed memory management tool to two analyses of North American Rheumatoid Arthritis Consortium studies and...

Genome-wide association studies (GWAS) have been used to identify regions of the genome related to various phenotypes in humans, corn, rice and cattle. Successful application of this approach to bioenergy crops such as Populus requires 1) an appropriate mapping population, 2) high-quality phenotypic data and 3) informative genotypic data. With the goal of reducing the recalcitrance of lignocell...

MOTIVATION The sequencing of the human genome has made it possible to identify an informative set of >1 million single nucleotide polymorphisms (SNPs) across the genome that can be used to carry out genome-wide association studies (GWASs). The availability of massive amounts of GWAS data has necessitated the development of new biostatistical methods for quality control, imputation and analysis ...

Genome-wide association studies (GWAS) have gained considerable momentum over the last couple of years for the identification of novel complex disease genes. In the field of Alzheimer's disease (AD), there are currently eight published and two provisionally reported GWAS, highlighting over two dozen novel potential susceptibility loci beyond the well-established APOE association. On the basis o...

Cardiovascular disease remains the major cause of worldwide morbidity and mortality. Its pathophysiology is complex and multifactorial. Because the phenotype of cardiovascular disease often shows a marked heritable pattern, it is likely that genetic factors play an important role. In recent years, large genome-wide association studies have been conducted to decipher the molecular mechanisms und...

1 HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America, 2 Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America, 3 Department of Biology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America, 4 Carolina Center for Genome Sciences, The University of North C...

Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease. In this work, we review the key concepts underlying GWAS, including the architecture of common diseases, the structure of common human genetic variation, technologies for capturing genetic information, study designs, and the statistical me...

Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...

The first wave of cancer genome-wide association studies (GWAS) have revealed tens of independent loci marked by common variants of unknown or likely no functional significance that explain about 5-10% of familial risk for the particular disease. The approach taken to date has been conservative, and only a fraction of information has yet to be extracted from these expensive enterprises. For exa...