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During this filtration and integration process, all CNVs were concurrently curated to re-define breakpoints based on the source of CNVs.
SV detection algorithms typically predict SV breakpoints based on the distribution of discordant paired-end alignments, in which the paired reads map to opposite ends of an SV breakpoint, and/or split-read alignments where reads align across an SV breakpoint.
In order to evaluate the significance of the enrichment of observed breakpoints depending of the flanking markers, we calculated the number of expected breakpoints based on the total size of inter-marker regions of each type using a chi-square test.
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A segmentation algorithm computes the new coordinates of the breakpoint based on the alignments.
To compensate for the generally higher values of M, as one sums up density and low, one will have to use higher numbers for the level breakpoints based on M than those of the standard LOS schemes.
The incomplete SNP haplotypes of the component individuals were then completed by computational imputation of missing genotypes and of recombination breakpoints based on haplotype information from the nonmissing data.
We employed a genomic segmentation algorithm which defines breakpoints based on systematic change in intensity along the chromosome, unlike the Hidden Markov Model which allocates intensities to a predefined copy number state (0, 1, 2, 3……).
We reconsidered this question taking advantage of a recently published methodology for the precise detection of rearrangement breakpoints based on pairwise genome comparisons.
Split-read methods detect breakpoints based on a read spanning a breakpoint and, as a result, length of the sequence read as well as the sequence complexity of the breakpoint determine sensitivity (Karakoc et al., 2011).
An alternative technique to array painting for fine-mapping of translocation and complex rearrangements breakpoints, based on 'Chromatin Conformation Capture on Chip' or 4C (Simonis et al., 2009) has been described.
In addition, we are currently developing a new method to genotype simultaneously multiple inversions with known breakpoints based on probe hybridization, which could be very useful to analyze a large number of individuals [ 52].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com