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Chunk #44 — RESULTS — Mapping of newly identified events to known copy number variants

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
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to real sample-related differences and/or the genome coverage of the platform used. In summary, 37/68 loci were mapped to the database and among those 20 were nested within database loci (Supplementary Table S4A). When we analysed the additional loci found with the combined dataset and log Bayes Factor over 30 (Supplementary Table S2A), 11/15 events were found to overlap to database loci and 9 of these were nested within database loci. Several of the CNVs identified were present in more than one sample providing further support for the additional events detected. An interesting example is the duplication event on chromosome 10 found in both samples No. 2 and 8, a mother a and daughter respectively; the same CNV was not present in the father (sample No. 3) (Supplementary Figure S2 shows examples of the browser view of the CNV data). We extended the analysis to the BeadStudio LOH+ detected loci (Supplementary Table S4B and S4C). Using the HumanHap300 data, 53 unique events were identified on autosomes (another 52 events mapped on chromosome X), 48 of these novel loci mapped to the database, but only three were nested in known events. The QuantiSNP loci have a median overlap of 27.5% with