Chunk #20 — Statistical Methods — CNV discovery and validation — Gaussian Mixture Model

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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results from the CNAT35 and CBS36,37 algorithms and by replicating a subset of CoLaus subject on Illumina arrays. All calls at the 16p11.2 locus made by the highly stringent CBS algorithm were replicated by the Gaussian mixture model. Principal components analysis detected no significant batch effects. Sample data from the algorithm applied to the CoLaus cohort is illustrated in Supplementary Figure S5b.