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Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.…
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
TLDR
An online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs) is developed, well-suited to guide future investigations of the role of common variants in complex disease etiology.
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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
TLDR
A number of recent improvements to theNHGRI Catalog of Published Genome-Wide Association Studies are presented, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.
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The Cardiovascular Health Study: design and rationale.
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Heart disease and stroke statistics--2006 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee.
TLDR
The American Heart Association works with the Centers for Disease Control and Prevention’s National Center for Health Statistics (CDC/NCHS), the National Heart, Lung, and Blood Institute (NHLBI, the National Institute of Neurological Disorders and Stroke (NINDS), and other government agencies to derive the annual statistics in this update.
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Genomewide association studies and assessment of the risk of disease.
  • T. Manolio
  • Medicine, Biology
    The New England journal of medicine
  • 2 July 2010
TLDR
The design of genomewide association studies is described and the extent to which the data they provide are useful in predicting the risk of disease is considered.
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Incidence of and risk factors for atrial fibrillation in older adults.
TLDR
The incidence of AF in older adults may be higher than estimated by previous population studies and left atrial size appears to be an important risk factor, and the control of blood pressure and glucose may be important in preventing the development of AF.
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How to interpret a genome-wide association study.
TLDR
The design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance are described.
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Genome partitioning of genetic variation for complex traits using common SNPs
TLDR
The results provide further evidence that a substantial proportion of heritability is captured by common SNPs, that height, BMI and QTi are highly polygenic traits, and that the additive variation explained by a part of the genome is approximately proportional to the total length of DNA contained within genes therein.
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Guidelines for investigating causality of sequence variants in human disease
TLDR
The key challenges of assessing sequence variants in human disease are discussed, integrating both gene-level and variant-level support for causality and guidelines for summarizing confidence in variant pathogenicity are proposed.
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