paperKB
coga / coga-kb
Help
Sign in

Chunk #24 — MATERIALS AND METHODS — Statistical model — Joint inference on multiple samples

Source
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
Embedded
yes

Text

To test the effectiveness of joint updating of the transition matrices we artificially generated data for 1000 assays of a 500 SNP long chromosome containing a single 5 SNP aberrant region. We then applied QuantiSNP independently to each individual assay and then QuantiSNP, in its multi-sample analysis mode (we manually set K = 100), to the entire dataset. This procedure was repeated 100 times. We then assessed the performance by counting the number of deleted SNPs that were correctly called by the single- and multi-sample analysis modes and computing the average over the 100 iterations. Figure 3 shows the improved detection of a small deletion and duplication region shared by 1000 individuals.