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Individuals with no G202A mutation were classified G6PD B, heterozygotes for the G202A mutation were classified G6PD A and homozygote or hemizygote (males) for the G202A mutation were classified G6PD A-.
Twelve descendants who did not carry the mutation were classified as controls, whereas 6 descendants who did carry the mutation where identified as pre-symptomatic.
As expected, almost all samples with a KRAS mutation were classified as mutation-like by the combined signature (16 of 20), and within this group the gene signature model showed no association with treatment response (p=0.63).
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Conversely, higher thresholds of conservative classifiers, such as –0.5, reduce the frequency of a mutation being classified as pathogenic, consequently predicting a smaller set of more reliable disease-associated mutations.
If this mutation was classified as outside the L2 domain, our p-value had been strengthened from p = 0.0136 to p = 0.0096.
The EA S1206Y mutation was classified as moderately resistant.
A mutation is classified as affecting protein function (stabilizing or destabilizing) using the stability cutoff of ±2 kcal mol-1[ 35].
If the observed nucleotide was T, its ancestral nucleotide was C, and the downstream nucleotide was G, the mutation was classified as a CpG type.
If the observed nucleotide was C, its ancestral nucleotide was T, and the downstream nucleotide was G, the mutation was classified as a TpG type.
If a reference allele and a substituted allele were of the same nitrogenous base (purine and purine, pyrimidine and pyrimidine), the mutation was classified as a transition (Ti).
Similarly, a missense mutation was classified as deleterious if scored as "deleterious" by SIFT algorithm or "Probably Damaging" by Polyphen algorithm.
More suggestions(15)
mutation were treated
mutation were screened
mutation were compared
mutation were used
mutation were determined
mutation was classified
mutation were diagnosed
mutation were detected
mutation were considered
mutation were obtained
mutation were selected
mutation were reported
mutation were included
mutation were analysed
mutation were generated
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