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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

Fig. 2

Profiles of mutations detected in our study. a Exonic deletions and duplications detected by relative-depth comparisons. a-1 Heterozygous deletion involving exons 2−3 in the BRAT1 gene of patient 16 (P16), (a-2) heterozygous duplication involving exons 6−8 in the WWOX gene in patient 17 (P17). b Examples of chromosomal copy number alterations detected by off-target analysis of targeted next-generation sequencing results. b-1 Heterozygous deletion of the 15q11.2 region (downward arrow) observed in patient 27. b-2 Heterozygous duplication of the 19p13.3 region (upward arrow) observed in patient 28

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BMC Medical Genomics

ISSN: 1755-8794

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