ArticleHuman heredity2011
Assessing the impact of non-differential genotyping errors on rare variant tests of association.
Article in Human heredity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Distinct error rates for reference and nonreference genotypes estimated by pedigree analysis.Genetics · 2021Article
- Impact of genotyping errors on statistical power of association tests in genomic analyses: A case study.Genetic epidemiology · 2017Article
- A POWERFUL METHOD FOR INCLUDING GENOTYPE UNCERTAINTY IN TESTS OF HARDY-WEINBERG EQUILIBRIUM.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2017Article
- The impact of genotype calling errors on family-based studies.Scientific reports · 2016Article
- Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond.Genetic epidemiology · 2014Article
- Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.BMC bioinformatics · 2014Article
- Comparison of genotype clustering tools with rare variants.BMC bioinformatics · 2014Article
- Evaluating the concordance between sequencing, imputation and microarray genotype calls in the GAW18 data.BMC proceedings · 2014Article
- Evaluating the impact of genotype errors on rare variant tests of association.Frontiers in genetics · 2014Article
- Imputation-based genomic coverage assessments of current human genotyping arrays.G3 (Bethesda, Md.) · 2013Article
- A geometric framework for evaluating rare variant tests of association.Genetic epidemiology · 2013Article
- Assessing the impact of differential genotyping errors on rare variant tests of association.PloS one · 2013Article
- Single-variant and multi-variant trend tests for genetic association with next-generation sequencing that are robust to sequencing error.Human heredity · 2012Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
BACKGROUND/
aimsWe 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.
methodsWe 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.
resultsEven 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.
conclusionError 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.
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