Breakpoints for the majority of these pericentric inversions are located in the low-recombinant gene-poor pericentromeric regions.
By MDA, 2G QFP sequences showed significant association with the 3′ breakpoints of the majority of clinical categories (six of seven), while 5' breakpoints were associated with 2G QFP sequences in two of the categories (Additional file 6: Table S3A,B).
2G QFP and 3G QFP sequences show significant enrichment with both 5′ and 3′ breakpoints for in the vast majority of tests up to 50 nt (including both motif to b-p and b-p to motif analysis; binomial p-values shown in Additional file 4: Table S2).
It must be noted that we found nucleotide insertions, from 1 to 12 nucleotides, at the breakpoint junctions of 9p21 deletions in the majority (20/23) of the junctions, not just where RSSs-like heptamer sequences were present, in accordance with the finding that 10 20% of non-homologous junction in mammalian cells have nucleotides inserted at the junction (Roth et al. 1989).
These breakpoints result in hemizygosity for the same set of genes in the majority of WS cases (Fig. 1).
To put our findings into perspective, we note that SM breakpoints have previously been shown to cluster in gene regions in the majority of cancer types [ 5].
However, even when excluding these CNVs from analysis, there remains a significant enrichment of Alus at the deletion breakpoints, suggesting that Alus also contribute to other mechanisms of formation involved in the majority of our deletions.
In a pattern similar to dbCRID, 90% of BCL-2 breakpoints in the database were in the 3′ UTR, the vast majority clustering in a 150 bp window.
Serum and CSF linezolid concentrations exceeded the breakpoint of 4 μg/ml for susceptible target pathogens for the entire dosing interval in the majority of patients.
Analyses of the genomic breakpoints showed that although the translocation is accompanied by deletions, duplications and insertions, a MALT1-API2 fusion protein can be formed in the majority of cases [35], [36].
