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When we perform a sole variant test we compare a model including both 'everything else' and the 'particular variant' with a model including the 'particular variant'.
For the protective haplotype in Class I, B58 is a sole variant associated with MS; on the contrary, from the independence test B58 turns out to be independently associated with MS given A2 Cw7 (p-value of 0.0004 of the LRT).
As for the deleterious haplotype, DR2 turns out to be a sole variant, but it is not independently associated to MS. The strong linkage disequilibrium between the DR3 and DQ2 alleles (D' = 0.98, R2 = 0.75) does not allow us to identify which of the two loci is responsible of the association (Table 2).
We carried out on the protective and the deleterious haplotype separately considered a sole variant and independent test and a conditional independence test to investigate which loci within Class I and Class II could be considered as a single variant associated with the disease (Table 2).
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Finally, we performed two hypothesis driven related conditional tests (independent effect and sole variant tests) to try to identify which variant, or variants, is solely and independently associated with the disease [45].
Within each haplotype, we also estimated the effect in terms of odds ratio of each sole variant in Class I adjusted for the effect of the sole variant in Class II loci versus all the other variants in Class I also adjusted for the effect of the sole variant in Class II loci, by fitting a model including both the sole variant in Class I and the sole variant in Class II.
To further pinpoint the specific allele contributing to MS susceptibility, a conditional independent test was carried out between the sole variants identified within Class I loci and the sole variant within Class II loci.
In Class II, the sole variant is DQ1 empirical p-value of 0.74) and also DQ1 is independently associated with MS given DR2 (p-value = 0.001).
As for the deleterious haplotype, on the basis of the LRT we identify B18 as being the sole variant in Class I loci.
In two of the four cases, the TP53 mutation present as the sole variant in the CNS metastasis was also detected in the primary cancer, in both cases in the presence of other mutations: in Case 19P, three mutations (Pro300Leu, Ser260Phe and the complex mutation Ser183Ter) were detected, but only Ser183Ter (homozygous) was detected in the CNS metastasis 19BM.
HIV-1 variants that recognize CD4 as a sole receptor have not been isolated.
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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