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The Agilent Human CGH array was used with the assumption that as a research tool it could comprehensively evaluate and reveal gross copy number changes at nearly 1 million loci.
Although we did not score these changes as new MLPA-detectable pathogenetic lesions in our analysis, these results demonstrate that MLPA may be used to detect small mutations in addition to gross copy number changes.
To verify if gross copy number variations (CNVs) are often present in point mutation-negative hereditary PS deficiency we used multiplex ligation-dependent probe amplification (MLPA) as a detection tool in samples from individuals with a high probability of having true PS deficiency.
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Affymetrix 500K SNP array analysis revealed all paediatric glioma cell lines to display complex genomes with numerous gross chromosomal copy number abnormalities and rearrangements.
As shown in Figure 3, the algorithm detects mostly the same gross regions of copy number change as aCGH on the Affymetrix 100 k SNP platform, albeit with better resolution and higher dynamic range.
As shown in Figure 1a HPV16 episomes persisted in these cells without any apparent loss or gross reduction of copy number through all the passages.
The gross number of copies can be obtained by measuring the polypeptide chain elongation rate and the net number of copies can be measured empirically.
The gross numbers of copies of rpsL and rplL were each assumed to be the product of the number of copies per ribosome and the number of ribosomes per cell.
In principle, the theoretical analysis we have described has the potential for measuring the gross number of copies of a specified protein per cell; a parameter that is not readily accessible.
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