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Logistic regression was used to model the risk of CRC associated with the panel of variants both individually in univariate analyses and in multivariate models.
To confidently interpret the obtained splicing results, a mini-gene splicing assay should be validated by assessment of the sensitivity and specificity using a panel of variants classified previously.
We commit to update the web tool regularly by incorporating more gene expression data sets and imputing the latest panel of variants from the 1000 Genomes Project when available.
To address a possible role for the WxxxE motif in interaction of BtpA with microtubules, we performed ectopic expression analysis to study the subcellular localisation of the wild type protein and a panel of variants.
Further locus enrichment with variants not directly genotyped is possible using the process of imputation, which requires a genotyped data set and a reference panel of variants configured as phased haplotypes.
Assuming correct understanding and interpretation of these data, complex genetic testing including the entire panel of variants known to contribute to the phenotype of a specific disease will significantly improve diagnosis for any monogenic disorder.
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These recommendations include a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing PGx assays.
We chose to use a panel of variant used by the Department of Pathology and Medical Genetics, St. Olav University Hospital, to determine PM, EM and URM.
We were therefore interested to investigate whether the negative epistatic interaction between HbAS and α+thalassemia might relate to changes in cytoadhesion, rosetting and PfEMP1 expression in pRBCs of mixed genotype, a hypothesis that we investigated in the current study using the largest panel of variant RBCs studied to date.
We anticipate that future advances in methods to determine the combinatorial effects of mutations will enable effective assessment of factors including long-range genetic interactions, and will facilitate integrated association analyses of panels of variants and specific phenotypes.
A panel of Fc variants has been generated that display substantial enhancements over existing variants in both in vitro Fc/FcγR binding assays and cell-based ADCC assays.
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