Molecular Psychiatry



Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

E Skafidas, R Testa, D Zantomio, G Chana, I P Everall and C Pantelis


Figure 3.

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(a) Genetic-based classification of CEU population (AGRE and Controls) for ASD and non-ASD individuals, showing Gaussian approximation of distribution of individuals. As both the mapped ASD and control populations were well approximated by normal distributions, the asymptotic Test Positive Predictive Value (PPV) and Negative Predictive Value (NPV) was determined. For individuals with CEU ancestry, the PPV and NPV were 96.72% and 94.74%, respectively. (Note the test was substantially less predictive on individuals with different ancestry, that is, Han Chinese). (b) Genetic-based classification of CEU population, including first-degree relatives (parents and siblings of ASD children). Note that the distribution of relatives of ASD children maps between the ASD and the control groups, with no difference found between mothers and fathers (see Supplementary material S5). Key: ASD, autism spectrum disorder; relatives, first-degree relatives (parents and siblings); Siblings, siblings of ASD cases not meeting criteria for ASD; Autism Classifier Score, scores for each individual derived from the predictive algorithm, with greater values representing greater risk for autism.

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