Figure 1 | Genetics in Medicine

Figure 1

From: Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Figure 1

Examples of intragenic deletion and duplication detected by WES and confirmed by exome aCGH. Each bar in the graphs (a)–(c) and (e)–(g) represents an exon. (a–c) WES data from a family trio in which the (a) proband has inherited a whole-gene duplication of KRT34 from the (b) father, whereas the (c) mother shows normal copy number at that gene. (e–g) WES data from a family trio in which the (e) proband has inherited a partial-gene heterozygous deletion in the SYCP2L gene from the (g) mother, whereas the (f) father shows normal copy number at those exons. Each dot in panels d and h represents an oligonucleotide probe in the gene of interest on the exome array, with a duplication shown by probes deviating to a positive log2 ratio (marked in red) and a deletion shown by probes deviating to a negative log2 ratio (marked in green). Panels d and h show confirmation of the KRT34 duplication and the SYCP2L deletion, respectively, by exome aCGH. aCGH, array comparative genomic hybridization; WES, whole-exome sequencing.

Back to article page