Chunk #16 — CNV analysis — Rare CNV burden

Source

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

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Conditional permutation test20 was performed to test the hypothesis that cases exhibit a greater burden of rare (carrier frequency<1%) and large (>100kb) CNVs relative to controls. Statistical significance was established by 10,000 rounds of permutation.