期刊
HUMAN HEREDITY
卷 72, 期 3, 页码 153-160出版社
KARGER
DOI: 10.1159/000332222
关键词
Sequencing data; Power; Case-control; Misclassification
资金
- National Human Genome Research Institute [R15HG004543]
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R15HG004543] Funding Source: NIH RePORTER
Background/Aims: We aim to quantify the effect of non-differential genotyping errors on the power of rare variant tests and identify those situations when genotyping errors are most harmful. Methods: We simulated genotype and phenotype data for a range of sample sizes, minor allele frequencies, disease relative risks and numbers of rare variants. Genotype errors were then simulated using five different error models covering a wide range of error rates. Results: Even at very low error rates, misclassifying a common homozygote as a heterozygote translates into a substantial loss of power, a result that is exacerbated even further as the minor allele frequency decreases. While the power loss from heterozygote to common homozygote errors tends to be smaller for a given error rate, in practice heterozygote to homozygote errors are more frequent and, thus, will have measurable impact on power. Conclusion: Error rates from genotype-calling technology for next-generation sequencing data suggest that substantial power loss may be seen when applying current rare variant tests of association to called genotypes. Copyright (C) 2011 S. Karger AG, Basel
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