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We generated the complete set of single nucleotide point mutants and tested their transcription activity.
These aberrations include single nucleotide point mutations, changes in chromosome copy number [9], [10], and specific genomic amplifications or deletions that are implicated in the pathogenesis of lung tumor development and progression through the activation of oncogenes and inactivation of tumor suppressor genes [11], [12], [13], [14], [15], [16].
Genetic examinations of the SCN5A gene at 6 positive patients showed 6 known polymorphisms, 8 new single nucleotide point (SNP) variants located at exons, and 12 new single nucleotide point variants located at introns.
Both methods typically use a single nucleotide point, the midpoint or mode of the peak, to represent the entire peak region.
In approximate tandem repeat, a small number (no more than 30%) of characters in pattern copies are distorted by indels and nucleotide point mutations.
This was shown to be the result of a single nucleotide point mutation within the chs2 chitin synthase involved in cell wall biosynthesis (Brunke et al. 2014).
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When comparing genomic DNA, the extreme nucleotide points offer a better view of the differences between sequences than ones near the origin.
The parameters of T are therefore estimated by the 4 × 4 matrix of observed nucleotide point-mutations n ij.
The resulting approximately 12 copies of the gene when compared with just two copies in 90-125 are distributed over five chromosomes and are all identical at the nucleotide level, pointing to a recent expansion.
In all but one case, the null model was a single-nucleotide "point substitution" model that was reversible and strand-symmetric (but otherwise fully general).
Secondary mutations in BCR-ABL are mainly single-nucleotide point mutations of the kinase domain, deletion or insertion mutations are rare.
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