Assessing the function of genetic variants in candidate gene association studies

Timothy R. Rebbeck; Margaret Spitz; Xifeng Wu

doi:10.1038/nrg1403

Assessing the function of genetic variants in candidate gene association studies

Timothy R. Rebbeck, Margaret Spitz, Xifeng Wu

Epidemiology

Research output: Contribution to journal › Review article › peer-review

154 Scopus citations

Abstract

Knowledge of inherited genetic variation has a fundamental impact on understanding human disease. Unfortunately, our understanding of the functional significance of many inherited genetic variants is limited. New approaches to assessing functional significance of inherited genetic variation, which combine molecular genetics, epidemiology and bioinformatics, promise to enhance reproducibility and plausibility of associations between genotypes and disease.

Original language	English (US)
Pages (from-to)	589-597
Number of pages	9
Journal	Nature Reviews Genetics
Volume	5
Issue number	8
DOIs	https://doi.org/10.1038/nrg1403
State	Published - Aug 2004

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1038/nrg1403

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title = "Assessing the function of genetic variants in candidate gene association studies",

abstract = "Knowledge of inherited genetic variation has a fundamental impact on understanding human disease. Unfortunately, our understanding of the functional significance of many inherited genetic variants is limited. New approaches to assessing functional significance of inherited genetic variation, which combine molecular genetics, epidemiology and bioinformatics, promise to enhance reproducibility and plausibility of associations between genotypes and disease.",

author = "Rebbeck, {Timothy R.} and Margaret Spitz and Xifeng Wu",

note = "Funding Information: Some of the work discussed in this review was supported by grants from the Public Health Service and the University of Pennsylvania Cancer Center.",

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AU - Wu, Xifeng

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AB - Knowledge of inherited genetic variation has a fundamental impact on understanding human disease. Unfortunately, our understanding of the functional significance of many inherited genetic variants is limited. New approaches to assessing functional significance of inherited genetic variation, which combine molecular genetics, epidemiology and bioinformatics, promise to enhance reproducibility and plausibility of associations between genotypes and disease.

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Assessing the function of genetic variants in candidate gene association studies

Abstract

ASJC Scopus subject areas

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