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The total repeat base pairs were calculated for each sub-region using the merged partitioned repeats.
Instead, potential energy-minimized structures for the major species present at equilibrium, involving a Hoogsteen X·C base pair and a Watson−Crick G·C base pair, and a minor species, involving tandem X·C and G·C Hoogsteen base pairs, were calculated.
For structures with pseudoknots, the sensitivity and PPV for pseudoknotted base pairs were calculated separately with eqs 2 and 3. Pseudoknotted base pairs are those that form between single-stranded and loop bases and close the loop involved in formation of those base pairs (see Methods).
Summary statistics for the analyzed annotations including the number of observed sites, the percentage of total nucleotides covered in the genome, the percentage of SNPs covered in the genome, and the average length of the annotated sites in base pairs were calculated for all annotations (Additional file 1).
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For the three real datasets (described in further detail in Supplementary Table S1), gene annotations for Mus musculus (NCBIM37) and Homo sapiens (GRCh37.p7) were obtained from Ensembl version 67 (Birney et al., 2004) using the Biomart tool (Kasprzyk et al., 2004), and the length of each gene in base pairs was calculated.
The average r within each kilo base pair was calculated and plotted against the physical distance.
The frequency at which each gene overlapped a CNV by at least one base pair was calculated for the cases and controls.
The positioning score for a given vector base pair was calculated by counting the number of dyads in a narrow window (± 5 bp) around a particular base pair, and dividing by the number of dyads in a larger window (± 150 bp) around the same base pair.
In order to have a continuous score across query sequences of variable length, the NXScore for each single base pair was calculated relative to a 147 base pair window, defined as the neighborhood of a particular nucleotide, centered at that nucleotide.
Skew (or "asymmetry") between base-pairs was calculated as follows: GC skew = (G – C /total GC) and AT skew = (A – T /total(AT).
Normalized nucleosome occupancy at every base-pair is calculated by the log-ratio between the corresponding absolute nucleosome occupancy O i and the average nucleosome occupancy 〈 O i 〉 per base-pair across the genome as (9) O j nor = log O j O j.
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