Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals
2008

Performance Evaluation of SNP Array 6.0 in Japanese Individuals

Sample size: 400 publication Evidence: high

Author Information

Author(s): Nishida Nao, Koike Asako, Tajima Atsushi, Ogasawara Yuko, Ishibashi Yoshimi, Uehara Yasuka, Inoue Ituro, Tokunaga Katsushi

Primary Institution: Department of Human Genetics, Graduate School of Medicine, The University of Tokyo

Hypothesis

How well does the SNP Array 6.0 platform perform in genotyping Japanese individuals?

Conclusion

The SNP Array 6.0 platform is effective for identifying genetic factors related to diseases in the Japanese population.

Supporting Evidence

  • The SNP Array 6.0 platform achieved an overall call rate of over 99.5%.
  • 661,599 SNPs were available for genome-wide association studies after filtering.
  • The Birdseed algorithm showed a high concordance rate of over 99.8%.

Takeaway

This study looked at how well a special DNA testing method works on Japanese people, and it found that it works really well.

Methodology

Genotyping of 400 Japanese samples using the SNP Array 6.0 platform and the Birdseed algorithm.

Potential Biases

Potential for false associations due to inaccurately called SNPs.

Limitations

Some samples that passed QC criteria still had low-quality genotyping results.

Participant Demographics

400 Japanese individuals.

Statistical Information

P-Value

0.0053

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2164-9-431

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