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We aimed to explore eight functional genetic LRP1 variants for their potential roles in regulating FVIII levels and acute ischemic stroke (AIS).
We have previously employed an in vitro (genetic) selection procedure to select RNase P ribozyme variants for their activity in cleaving a mRNA substrate from a pool of ribozymes containing randomized sequences.
Innovations in experimental and computational tools such as massively parallel reporter assays and deep learning have enabled the rapid screening of genomic variants for their causal impacts on splicing.
We subsequently sought to evaluate MEFV common variants for their association with IBD.
Therefore, we tested several variants for their ability to shuffle a transgene between landing sites on different chromosomes.
Thus, individual investigators could in effect have a personalized database of sequence variants for their background strains in addition to those found in public databases like dbSNP.
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We systematically evaluated several methods including variations on the nearest neighbor based outlying degree method, as well as the Zscore and a robust variant for their suitability to detect patient-specific events.
Indeed, most independent scientific publications from a large number of research groups have used the 15-kDa ALR variant for their experiments and this is now the general standard, in ALR experiments, to have comparable data.
In this work, the two cofactor-binding loops (residues 185 192 and 382 392) were progressively mutated towards the equivalent sequence from the thermostable Thermus thermophilus TK and variants assessed for their impact on both thermostability and activity.
Using D. melanogaster, we tested integrase variants (Int*) for their ability to excise, integrate, and re-integrate transgenes.
The variants were selected for having previously been implicated in Novelty Seeking (rs237902, see [ 17]), for a heterozygosity of >0.4 (both variants), and for their inclusion in major commercial SNP arrays (rs237900).
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