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Cited by 359

The DOI matches its Crossref record; 73 of the 73 references it cites were found in a registry or an index.

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

Open access
McCarthy, M. I., Hirschhorn, J. N.·2008·Human Molecular Genetics

Abstract

Genome-wide association studies have successfully identified numerous loci at which common variants influence disease risk or quantitative traits. Despite these successes, the variants identified by these studies have generally explained only a small fraction of the heritable component of disease risk, and have not pinpointed with certainty the causal variant(s) at the associated loci. Furthermore, the mechanisms of action by which associated loci influence disease or quantitative phenotypes are often unclear, because we do not know through which gene(s) the associated variants exert their effects or because these gene(s) are of unknown function or have no clear connection to known disease biology. Thus, the initial set of genome-wide association studies serve as a starting point for future genetic and functional studies. We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures.

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Metadata

Authors
McCarthy, M. I., & Hirschhorn, J. N.
Venue
Human Molecular Genetics
Published
2008-10-15
Volume
17
Issue
R2
Pages
R156-R165
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2154238506
Cited by
359
References
73
FWCI
20.92
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Genome-wide association studies: potential next steps on a genetic journey. https://app.cochat.ai/papers/10.1093/hmg/ddn289
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McCarthy, M. I., & Hirschhorn, J. N. (2008). Genome-wide association studies: potential next steps on a genetic journey. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddn289

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