Genomewide Association Studies and Human Disease

By John Hardy, A. Singleton. New England Journal of Medicine, 2009

801 citations recorded by the source corpus.

Genomewide association studies have uncovered many genetic variants that confer susceptibility to disease. This article describes the genomewide association study and new approaches that may address some of its limitations.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/516286080046424d0651ff0332d8e2aaab67a017

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In Genetics

Citations in the corpus

Spatially Uniform ReliefF (SURF) for computationally-efficient filtering of gene-gene interactions (2009, background): “Genome-wide association studies targeting common variants which, alone, influence susceptibility have produced mixed results [1-5].”
Finding the missing heritability of complex diseases (2009, methodology): “Box 3 jMaking the most of existing and future GWAS The following steps can be used to make the most of existing and future GWAS: (1) ensure the wide availability of data with appropriate protections for consent and privacy.”
Prioritizing GWAS results: A review of statistical methods and recommendations for their application. (2010, background): “More specifically, the informative review by Hardy and Singleton defines and explains many of the important GWAS concepts.(8) It also concludes that if the genetics of complex diseases is comparable to a jigsaw puzzle, we have put the edges and corners in place and now have a framework to pursue the”
Tobacco-smoking-related differential DNA methylation: 27K discovery and replication. (2011, background): “This development resembles the first establishment of genome-wide SNP arrays, which was a major prerequisite for successfully elucidating the genetic architecture of many complex diseases.(8,9) With large numbers of candidate loci being investigated and increasing the danger of false-positive findin”
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015, background): “genome wide association studies or GWAS) rather than family-based studies.(50,51) Currently, numerous GWAS reports have resulted in the cataloguing of over 1200 risk alleles for common, complex diseases and traits.”
Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics (2011, methodology): “(For recent reviews of GWAS methods, see Cardon and Bell 2001; Balding 2006; Hardy and Singleton 2009; Smith et al. 2009; for a recent example of a GWAS for rheumatoid arthritis risk, refer to box, case study of a GWAS: meta-analysis of six genome-wide association studies identifies seven new…”
Molecular networks as sensors and drivers of common human diseases (2009, background): “Interestingly, in the span of just a few years, the realization that tractable drug targets and clinically useful biomarkers of disease are not immediately apparent from GWAS data has, for some, reduced enthusiasm for the GWAS approac”
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses (2011, background): “The ongoing revolution in genomic and sequencing technologies has allowed researchers to routinely perform genome-wide association studies (GWAS) for multiple common human diseases and phenotypes (Frazer et al., 2007; Hardy and Singleton, 2009).”