2021
DOI: 10.1093/bioinformatics/btab150
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pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS

Abstract: Motivation When performing genome-wide association studies conventionally the additive genetic model is used to explore whether a single nucleotide polymorphism (SNP) is associated with a quantitative trait. But for variants, which do not follow an intermediate mode of inheritance (MOI), the recessive or the dominant genetic model can have more power to detect associations and furthermore the MOI is important for downstream analyses and clinical interpretation. When multiple MOIs are modelled… Show more

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Cited by 2 publications
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“…However, as we were only able to identify 19 distinct morphotypes within our population of n = 24 individuals and could not always reliably determine which morphotype was represented in each video, we are limited to treating flight trajectories recorded from the same birds as independent data points. We analysed the data statistically using R (v. 4.0.3) and R Studio (v. 1.3.1093) with the packages PropCIs [ 26 ] and diptest [ 27 ].…”
Section: Methodsmentioning
confidence: 99%
“…However, as we were only able to identify 19 distinct morphotypes within our population of n = 24 individuals and could not always reliably determine which morphotype was represented in each video, we are limited to treating flight trajectories recorded from the same birds as independent data points. We analysed the data statistically using R (v. 4.0.3) and R Studio (v. 1.3.1093) with the packages PropCIs [ 26 ] and diptest [ 27 ].…”
Section: Methodsmentioning
confidence: 99%
“…Similarly, the false positive rate is defined as the proportion of times we detected at least one false positive per replication out of 100 replications. True and false positive detection rates were further scrutinized by calculating 95% confidence intervals using the method of the Clopper and Pearson (1934) in the PropCIs R package (Scherer and Scherer 2018). For each setting, all SNPs selected to be vQTNs were removed prior to calculating the true and false positive detection rates.…”
Section: Qtn Detection Rates For Competing Modelsmentioning
confidence: 99%