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Chunk #41 — METHODS — Birdseye (‘CNV discovery’)

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
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This maximization is carried out using the standard Viterbi algorithm14. Segments of continuous copy number C are assigned a lod score reflecting the log-likelihood of the path including the event (Si = {F1i, Ci, Ci, Ci, ... F2i} versus the log-likelihood of the path excluding the event Si = {F1i, F1i, F1i, F1i, ... F2i} or Si = {F1i, F2i, F2i, F2i, ... F2i}), where F represents the copy number of the flanking segment (Supplementary Methods).