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Chunk #45 — 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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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 database loci, meaning that in general they map to partial events, either nested within or overlapping with the variants in the database. On the contrary, the median overlaps for the Human-1 and HumanHap300 BeadStudio LOH+ analyses are 882 and 1361% respectively, showing that these events are much larger than the database loci. In fact the median size of loci identified with the combined data analysis in QuantiSNP was 294 kb, while the median size for the events identified by BeadStudio LOH+ on HumanHap300 data was 906 kb.