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The effects of mutations were categorized into four impact groups: high, moderate, low, and modifier [ 34].
Seven CBF-AML patients harboring CEBPA mutations were categorized as ' CEBPA-mutant'.
Then the discovered mutations were categorized as AT transitions, AT transversions, CpG transitions, CpG transversions, CG (non-CpG) transitions, CG transversions, and indels.
The NTP mutations were categorized as having 1) base pair substitutions (None); 2) indels at the terminal end (Terminal); 3) internal indels (Partial); and 4) complete deletions (Complete).
For the 21 mutations in the patient data sets we analyzed, two mutations were categorized as exhibiting extreme aggregation propensity, 12 of the mutations fit criteria for high-aggregation propensity, six fit criteria as moderate and one fits criteria for low aggregation propensity (see Supplementary Material, Table S1).
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Mutations of PIK3CA were categorized as kinase domain mutation H1047R, and helical domain mutations (E542K, E545K, and also E545D and Q546R).
Mutations of PIK3CA were categorized as kinase domain (H1047R), helical domain (E542K, E545K, E545D and Q546R), or other (less common) including (N345K, R88Q, and E110K).
Approximately half were missense mutations, and 31% were categorized as 'other' (in intron sequences).
SNPs resulting in nonsynonymous mutations in coding regions were categorized using the COG database (Tatusov et al. 1997).
Finally, to evaluate the clinical relevance of DNMT3A R882 mutation hotspot, all patients were categorized into two subgroups with respect to DNMT3A R882 mutation status, and identical comparisons were performed again.
When the mutations found in the N1 subtype were categorized relative to two inhibitors (R292K excluded), 96% of all mutations were OC-related.
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mutations were categorised
mutant were categorized
mutations were found
mutations were selected
mutations were described
mutations were detected
mutations were eliminated
mutations were verified
mutations were confirmed
mutations were identified
mutations were genotyped
mutations were used
mutations were analyzed
mutations were inherited
mutations were made
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