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Also one benign radical variant in SCN5A had P pathogenic)≈1: there was no frequency data for it.
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The view of law as ideology, even in its radical variants, would not deny the presence of the rule of law in the liberal legal order; indeed, the rule of law is often invoked as a paradigmatic example of legal ideology.
PPVs for the three major genes are 0.999 for missense variants, 1 for radical variants and 0 for inframe indels.
A missense variant may lead to either loss or gain of function, whereas radical variants usually produce loss of function.
The model for radical variants is the simplest, including only two predictors (variant frequency indicator and gene effect).
The gene effect sizes for radical variants imply that the predictions for novel radical variants in these genes will almost always be confident, in keeping with our prior knowledge, and in accordance with current clinical practice.
The small number of radical variants for all LQTS genes apart from KCNQ1 and KCNH2 leads to a considerable weight being given to the prior odds of genes for radical variants by the model fitting.
The inframe intercept is much higher but somewhat less than that for radical variants, in concordance with previous reports [ 5].
The model for inframe indels is similar to that for radical variants, but also includes domain-specific terms.
The probability of pathogenicity of radical variants should depend on whether disease is mediated by loss or gain of function of the gene of interest.
The intercept represents the average pathogenicity of radical variants and it, like other intercept parameters introduced below, is assigned a N 0,10) prior distribution.
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