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Example sentences for: breakpoints

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In Case 1, two sets of identical pentamers (cagta and ggaaa) were identified near the breakpoints in introns 41 and 43.
None of these sequences are known to predispose to genomic rearrangements, although short stretches of identical sequence are often found at the sites of germline translocation and deletion breakpoints [ 20 21 22 ] . Genomic analysis of the parents and siblings of Case 2 indicated that the mutation was sporadic.
There are two sets of user input adjustable parameters for this method: the choice of the time "breakpoints" for the B-spline function, and the value of the smoothing parameter that "penalizes" the fits that have too sharp a curvature (see Methods for details).
The "spline function" (bottom row, left) and "uniform" (bottom row, right) deconvolution methods use the default input parameters (smoothing and breakpoints) determined using the gamma distribution fit to this data (top row, left) (see Methods).
To test whether the inversion breakpoints occur at a conserved distance from the 5' or 3' ends of the L1 elements, the start and the end positions of the 5' inverted L1 segment were compared using a scatterplot diagram for each inverted L1 with TSDs (Figure 6a).