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Statistical power and significance testing in large-scale genetic studies

Sham, Pak C., Purcell, Shaun M.·2014·Nature Reviews Genetics

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Abstract

Significance testing was developed as an objective method for summarizing statistical evidence for a hypothesis. It has been widely adopted in genetic studies, including genome-wide association studies and, more recently, exome sequencing studies. However, significance testing in both genome-wide and exome-wide studies must adopt stringent significance thresholds to allow multiple testing, and it is useful only when studies have adequate statistical power, which depends on the characteristics of the phenotype and the putative genetic variant, as well as the study design. Here, we review the principles and applications of significance testing and power calculation, including recently proposed gene-based tests for rare variants.

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Authors: Sham, P. C., & Purcell, S. M.
Affiliations: University of Hong Kong (HK)
Massachusetts General Hospital (US)
Corresponding author: Sham, Pak C.
ORCID: Sham, Pak C.
Purcell, Shaun M.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2014-04-17
Volume: 15
Issue: 5
Pages: 335-346
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg3706
OpenAlex: W2116514399
Cited by: 573
References: 102
Citations by year: 2026: 23 · 2025: 26 · 2024: 22 · 2023: 50 · 2022: 28 · 2021: 40 · 2020: 54 · 2019: 58 · 2018: 73 · 2017: 77 · 2016: 65 · 2015: 45 · 2014: 11
FWCI: 8.75
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institute of Mental Health (R01MH099126)
National Human Genome Research Institute (R01HG005827)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Physical Sciences › Mathematics › Statistics and Probability › Statistical Methods in Clinical Trials
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: statistical power, significance testing, multiple testing correction, rare variants, genome-wide association study, exome sequencing, significance threshold, research design
MeSH terms: Data Interpretation, Statistical, Gene Frequency, Genetic Testing, Genotype, Humans, Case-Control Studies, Sequence Analysis, DNA, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study

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Statistical power and significance testing in large-scale genetic studies

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