Accelerating Haplotype-Based Genome-Wide Association Study Using Perfect Phylogeny and Phase-Known Reference Data
2011

Efficient Method for Haplotype-Based Genome-Wide Association Studies

Sample size: 859 publication Evidence: high

Author Information

Author(s): He Yungang, Li Cong, Amos Christopher I., Xiong Momiao, Ling Hua, Jin Li

Primary Institution: CAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, Shanghai, China

Hypothesis

Can an efficient method for haplotype-based analysis improve the power of genome-wide association studies (GWAS)?

Conclusion

The proposed method significantly enhances the power of haplotype-based association studies without increasing type I error rates.

Supporting Evidence

  • The method showed a phasing accuracy of 99.61% to 99.63% in cross-validation.
  • Haplotype-based analysis revealed more significant associations with rheumatoid arthritis than single-SNP analysis.
  • 90.4% of associations were replicated in an independent dataset using haplotype-based analysis.

Takeaway

This study created a faster way to analyze genetic data that helps find disease-related genes better than older methods.

Methodology

The study developed a method that uses a reference panel to speed up haplotype inference in GWAS.

Potential Biases

Potential bias may arise from assumptions in the phasing process.

Limitations

The method's performance may vary with the size of the reference panel used.

Participant Demographics

The study included 859 cases and 1185 controls, with 565 males and 1479 females.

Statistical Information

P-Value

p<1.0×10−7

Statistical Significance

p<1.0×10−7

Digital Object Identifier (DOI)

10.1371/journal.pone.0022097

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