paperKB
coga / coga-kb
Help
Sign in

Chunk #2 — RESULTS — Genotyping of common copy number polymorphisms

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

Text

summarized measurements for a batch of samples are then clustered into discrete copy number classes using a one-dimensional Gaussian mixture model (GMM), where the expected location of copy number clusters is informed by the results of previous experiments (Fig. 2d-f). The resulting clusters are used to assign a CNP genotype to each sample at each CNP, as well as a score reflecting the confidence of each assignment (Supplementary Methods online).