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Chunk #39 — 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 transition probabilities between underlying copy number states are asserted such that transitioning out of a state reflecting normal copy number (typically 2, but varying for the sex chromosomes) is low, whereas transitioning within the same state or returning to normal copy number is relatively high. Furthermore, the transition probability is dependent on the distance between neighboring probes8. (The algorithm is fairly robust to reasonable variations in these settings.)