Impact of non-ignorable missingness on genetic tests of linkage and/or association using case-parent trios
2005

Impact of Missing Data on Genetic Tests

Sample size: 750 publication Evidence: moderate

Author Information

Author(s): Guo Chao-Yu, Cui Jing, Cupples L Adrienne

Primary Institution: Boston University

Hypothesis

How does non-ignorable missingness affect genetic tests of linkage and association using case-parent trios?

Conclusion

The EM-HRR test is more powerful than the 1-TDT when parental genotypes are missing randomly, despite the impact of non-ignorable missingness.

Supporting Evidence

  • The study found that the type I error of tests using incomplete trios was not inflated under either recessive or dominant disease models.
  • The power of the tests was found to be inflated due to an excess of heterozygous parents in dyads.
  • The EM-HRR test outperformed the 1-TDT under conditions of non-ignorable missingness.

Takeaway

This study looks at how missing information from parents can change the results of genetic tests, and it finds a better way to handle that missing data.

Methodology

The study used computer simulations with unrelated case-parent trios to examine the effects of non-ignorable missingness on genetic tests.

Potential Biases

Potential bias due to the non-random nature of missing parental genotypes.

Limitations

The results may not generalize to populations with different missingness patterns or to tests not examined in this study.

Participant Demographics

Simulated data from the Danacaa population.

Digital Object Identifier (DOI)

10.1186/1471-2156-6-S1-S90

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