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The article includes suggestions for improvements to diagnosis, including stratified testing for the most common mutations before screening for the rarer ones, and discussion of new and old animal models that have been developed to study and understand disease mechanisms and for the exploration of possible therapeutic strategies.
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SNPs that deviated from HWE (minimum exact test for HWE [54], [55] and stratified test for HWE [56] p-values <0.001), with call rates <95% or SNPs with MAFs <5% were removed from the analysis.
For the analysis of the primary endpoint, the Mantel-Haenszel stratified test will be used.
We start by revisiting the theory of the conventional stratified test within the general framework of the logistic regression model.
The combined, stratified test is given by: and the chi-squared test statistic is given by T = U/ V as usual.
The idea to combine stratified test results using Fisher's method is a good one and, frankly, did not occur to us.
Analyses were based on Power Marker software [ 21] and on the R software implementation of the Cochran-Mantel-Haenszel stratified test [ 22].
In particular, the statistic for the stratified test becomes where the stratum weights are a function of the ratio of cases to controls in each stratum.
In the original analysis of the data, the investigators used a linear model to identify genes that were significantly affected by dose together with a nonparametric stratified test for trend [ 23].
While the loss of power resulting from the use of stratified tests can be avoided by matching in the design of the case-control studies, many genome-wide association studies make use of readily available, general purpose control groups.
Thus, taking account of the independence of X and Z in the model avoids the loss of power of the stratified test as compared with the test which disregards the stratification, but it leads to no gain in power the two tests become identical.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com