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Chunk #8 — RESULTS — CNV calling

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
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We further investigated the overlap between CNVs and genomic features such as genes and segmental duplications. For platforms with a higher resolution, a lower proportion of CNVs overlap genes (Supplementary Fig. 6a). This effect is likely because lower-resolution platforms primarily detect larger CNVs that are more likely to overlap genes owing to their size (Supplementary Fig. 6b). These results indicate that higher resolution platforms more accurately capture the true proportion of genic CNVs. A similar effect is seen for segmental duplications (SegDups; Supplementary Fig. 7).