Chunk #43 — METHODS SUMMARY — Statistical and population analysis

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Origins and functional impact of copy number variation in the human genome.

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We devised statistical methods for CNV genotyping, absolute copy number estimation, breakpoint enrichment testing, and estimation of discovery power. We phased CNVs and SNPs into haplotypes using BEAGLE 3.0.3 (ref. 49), and used NestedMICA31 for breakpoint motif discovery.