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Figure 3 | BMC Genomics

Figure 3

From: Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation

Figure 3

Mendelian and non-Mendelian inheritance patterns in the presence of CNVs. (a) Although the parent on the left has copy number two at the locus, this is the result of a duplication on one chromsome and a deletion on the other. Standard (diallelic) genotyping methods would incorrectly identify a non-Mendelian pattern at the locus in this trio, as would total copy number information alone. However, accurate genotyping, taking CNVs into account, reveals that the pattern is Mendelian. (b) The de novo deletion is obscured when diallelic genotyping alone is considered, though copy number information reveals the event.

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