Chunk #33 — METHODS — Canary (‘CNP genotyping’)

Source

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.

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A series of heuristics are used to determine which GMM model is best. Using this model, each sample i (with intensity xi) is genotyped as the copy number of the cluster j (with mean μj, s.d. σj and frequency wj), which maximizes the equationP(j∣i)=(wj∕σj)×exp(−(xi−μj)2∕(2σj2))