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The most likely two-mutation model identified three haplotype risk backgrounds, corresponding to H2 and two subsets of H1 (Fig. 2).
Functional evaluation of three analogous human TEX11 missense mutations in transgenic mouse models identified one mutation (V748A) as a potential infertility allele and found two mutations non-causative.
For example, the conditional model identifies two HLA-mediated escape mutations in p6 (Table 1).
However, no statistical difference in those models containing ASXL1 mutation was identified compared with models containing clinical variables alone (Supplementary Figure S3).
> -wrap-foot> To estimate the parameters in the background mutation model, we could fit the model in Table 1 to the sequences for which silent mutations were identified.
SMM: stepwise mutation model.
The instability of GpT identified by SNP analysis supports the prediction of an elevated G→T,T mutation rate identified by modelling and by the under-representation of GpT in human (Additional file 2: Figure S1A; ≈80% of expected value) and in other mammalian sequence datasets (data not shown).
These screens demonstrate that mouse provirus insertion mutation models are able to efficiently identify genes involved in human cancer.
Starting with an in vivo pilot chemical screen using this strategy, we successfully demonstrated that our C. elegans and zebrafish ALS mutation models could be used to identify neuroprotective molecules.
In the c- myc mammary adenocarcinoma model, the ras mutation was identified as a genetic event that promotes c- myc-independent tumor growth [ 15].
By mapping the Nav1.1-related mutations to the Nav1.7 structure model, we identified that most mutations are located in the VSDs and the pore domain (Fig. 5A).
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