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For example, as yet at least 5% of the human genome has not been successfully sequenced or assembled for technical reasons that relate to eukaryotic islands being embedded in heterochromatic repeats, copy number variations, and unusually high or low GC content [ 69].
Forty-eight of these reports characterized genetic variation with respect to geography (global or regional) or described patterns of variation as they were identified for specific candidate genes or distinct classes of genetic markers (e.g. simple tandem repeats, copy number variants).
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A markedly high proportion of "large repeat copy number" events was observed in this study.
Telomere length was measured as the telomere repeat copy number relative to a single gene nuclear control genes (36B4).
Telomere length is expressed as T/S ratio, which is the relative ratio of telomere repeat copy number "T" to a single-gene copy number "S" (36B4).
Interestingly, all "large repeat copy number" events detected by us were at locus O157-10, winsertionsions and deletions occurring at nearly the same frequency.
We interpret the mixing coefficients { a1, a2, … aN} as estimates of the amount of unique sequence at each repeat copy number.
Small tandem repeats, copy-number variations, mutations in regulatory elements distant from the gene, or cellular changes other than mutations in genomic DNA might be relevant in some cases.
rDNA repeat copy number varied between 300 copies and 800 copies.
Unexpectedly, rDNA repeat copy number was decreased to almost the same level as wild type.
It was reported that deletion of FOB1 gene maintains rDNA repeat copy number at a constant level.
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