Chunk #40 — 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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The emission and transition probabilities are combined to find a path S = {s1, s2...sn} (representing the copy number state at each probe) that maximizes the probability of observing the data Xlog(P(x1,x2..xn))=∑i=1ton(log(P(xi∣si))+log(P(si∣si−1)))+log(P(state=2∣sn))