Fig. 3 | Genetics in Medicine

Fig. 3

From: Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Fig. 3

Patients with multiple variants. Family structures shown for autism spectrum disorder (ASD) patients with multiple disorder-related variants. The first seven patients from seven families carried multiple pathogenic or likely pathogenic variants. De novo (lightning bolt), paternally (blue arrow), and maternally (green arrow) inherited single-nucleotide variant (SNV) and copy-number variant (CNV) (duplication or deletion) events are indicated as well as the severity of the missense variants as determined by Combined Annotation Dependent Depletion (CADD) score (i.e., MIS27 denotes a missense variant with a CADD score of 27).

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