paperKB
coga / coga-kb
Help
Sign in

Chunk #32 — METHODS — Canary (‘CNP genotyping’)

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

Text

Canary is a one-dimensional GMM to cluster samples into discrete copy number classes. The initial conditions for each cluster are specified in a prior-models file that contains CNP-specific estimates of cluster locations and variances; a series of models are tested consisting of different number and combination of genotype clusters. Cluster parameters are updated via expectation-maximization, iteratively estimating cluster membership (E step) and maximizing cluster parameters (M step).