Chunk #21 — Statistical Methods — CNV discovery and validation — PennCNV, QuantiSNP and Birdsuite

Source

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

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CNV discovery in the EGPUT cohort was carried out using QuantiSNP38, PennCNV39 and BeadStudio GT module (Illumina Inc.). All analyses were carried out using the recommended settings, except changing EMiters to 25 and L to 1,000,000 in QuantiSNP. For PennCNV, the Estonian population-specific B-allele frequency file was used. Data from the SCOOP cohort were analysed using Affymetrix Power Tools and Birdsuite software40