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Chunk #7 — Results — GSV Analysis of Obesity-associated Regions

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Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.
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This procedure was applied to our cohorts for each of the 18 loci under investigation (8 identified in subjects with common obesity [16], 10 in subjects with extreme obesity [10]). Consistent with the original reports, short GSV regions often featured multiple overlapping aberrations with varying lengths and breakpoints (see Figure 1); by contrast, aberrations identified for larger GSV regions were much more consistent in both size and breakpoint location. The results of the analysis, summarised in Table 1, revealed somewhat different patterns of occurrence for the 2 sets of GSVs. For the 8 GSVs originally identified in subjects with common obesity, the overall frequency of calls at these loci in our cohorts (63 calls in a total of 7959 subjects) was 25% higher than that in the original report (42/6634), and GSVs at 6 out of 8 loci were detected at least twice. By contrast, the number of calls (21 in total) for the 10 extreme obesity GSV loci represented a 30% lower frequency than in the original report (29/7650), and only 5 out of 10 were detected at all: