Exome fallacy

Figure 1. Circling in on exome data. When comparing the coverage of exons in a particular region across three individuals, the percentage of base pairs with sufficient quality in all three patients is merely 68%.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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