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September 17, 2025Genomics Proteomics & BioinformaticsOpen Access

Boosting the Power of Rare Variant Association Studies by Imputation Using Large-scale Sequencing Population

Jinglan Dai Y. Zhang Yuan Gao Hongru Li S. X. Du Hao Hong Dongfang You Zaiming Li Ruyang Zhang Yang Zhao Zhonghua Liu David C. Christiani Feng Chen Sipeng Shen

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Key Points

Using imputed data from large-scale sequencing improves the identification of rare variants in complex traits.
TOPMed-imputed data showed a 27.71% increase in identified rare variants compared to conventional methods.
Association tests on 45 traits revealed that imputed data from TOPMed aligns closely with whole-genome sequencing findings.
Incorporating imputed data enhances the power of rare variant association studies, particularly in limited sample sizes.

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Implication

This analysis evaluates the efficiency of imputed data in rare variant studies, suggesting enhanced power for GWAS through large-scale sequencing.

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Cite This Study

Dai et al. (2025) studied this question.

synapsesocial.com/papers/68d46fd431b076d99fa6a21f https://doi.org/10.1093/gpbjnl/qzaf084

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