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Chunk #10 — RESULTS — Discovery and genotyping of rare CNVs

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
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models the emission probability of a probe given a sample with 0, 1, 3 or 4 copies of a locus. For the copy number probes on the array, we model only a single cluster per locus representing two copies, which represents the emission probability of normal samples; alternative copy number emission probabilities are imputed analogous to the method for imputing additional SNP clusters (Supplementary Methods).