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• W4306862036 endingPage "833" @default.
• W4306862036 startingPage "822" @default.
• W4306862036 abstract "Autism Spectrum Disorder (ASD) diagnosis remains behavior-based and the median age of diagnosis is ~52 months, nearly 5 years after its first-trimester origin. Accurate and clinically-translatable early-age diagnostics do not exist due to ASD genetic and clinical heterogeneity. Here we collected clinical, diagnostic, and leukocyte RNA data from 240 ASD and typically developing (TD) toddlers (175 toddlers for training and 65 for test). To identify gene expression ASD diagnostic classifiers, we developed 42,840 models composed of 3570 gene expression feature selection sets and 12 classification methods. We found that 742 models had AUC-ROC ≥ 0.8 on both Training and Test sets. Weighted Bayesian model averaging of these 742 models yielded an ensemble classifier model with accurate performance in Training and Test gene expression datasets with ASD diagnostic classification AUC-ROC scores of 85-89% and AUC-PR scores of 84-92%. ASD toddlers with ensemble scores above and below the overall ASD ensemble mean of 0.723 (on a scale of 0 to 1) had similar diagnostic and psychometric scores, but those below this ASD ensemble mean had more prenatal risk events than TD toddlers. Ensemble model feature genes were involved in cell cycle, inflammation/immune response, transcriptional gene regulation, cytokine response, and PI3K-AKT, RAS and Wnt signaling pathways. We additionally collected targeted DNA sequencing smMIPs data on a subset of ASD risk genes from 217 of the 240 ASD and TD toddlers. This DNA sequencing found about the same percentage of SFARI Level 1 and 2 ASD risk gene mutations in TD (12 of 105) as in ASD (13 of 112) toddlers, and classification based only on the presence of mutation in these risk genes performed at a chance level of 49%. By contrast, the leukocyte ensemble gene expression classifier correctly diagnostically classified 88% of TD and ASD toddlers with ASD risk gene mutations. Our ensemble ASD gene expression classifier is diagnostically predictive and replicable across different toddler ages, races, and ethnicities; out-performs a risk gene mutation classifier; and has potential for clinical translation." @default.
• W4306862036 created "2022-10-20" @default.
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• W4306862036 date "2022-10-20" @default.
• W4306862036 modified "2023-10-16" @default.
• W4306862036 title "A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years" @default.
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• W4306862036 cites W1969353942 @default.
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• W4306862036 cites W2009742334 @default.
• W4306862036 cites W2051323365 @default.
• W4306862036 cites W2071598557 @default.
• W4306862036 cites W2074790959 @default.
• W4306862036 cites W2081161499 @default.
• W4306862036 cites W2097360283 @default.
• W4306862036 cites W2101731812 @default.
• W4306862036 cites W2103112346 @default.
• W4306862036 cites W2106608030 @default.
• W4306862036 cites W2116117183 @default.
• W4306862036 cites W2118607380 @default.
• W4306862036 cites W2129475546 @default.
• W4306862036 cites W2130410032 @default.
• W4306862036 cites W2131541104 @default.
• W4306862036 cites W2138793275 @default.
• W4306862036 cites W2139102539 @default.
• W4306862036 cites W2140959043 @default.
• W4306862036 cites W2142438562 @default.
• W4306862036 cites W2146512944 @default.
• W4306862036 cites W2151382043 @default.
• W4306862036 cites W2159482845 @default.
• W4306862036 cites W2161868542 @default.
• W4306862036 cites W2170962119 @default.
• W4306862036 cites W2215644351 @default.
• W4306862036 cites W2225217592 @default.
• W4306862036 cites W2291794033 @default.
• W4306862036 cites W2303475965 @default.
• W4306862036 cites W2309085482 @default.
• W4306862036 cites W2318996262 @default.
• W4306862036 cites W2320580054 @default.
• W4306862036 cites W236622834 @default.
• W4306862036 cites W2409147312 @default.
• W4306862036 cites W2461476914 @default.
• W4306862036 cites W2484866312 @default.
• W4306862036 cites W2520025142 @default.
• W4306862036 cites W2555322215 @default.
• W4306862036 cites W2568400186 @default.
• W4306862036 cites W2589098519 @default.
• W4306862036 cites W2614349964 @default.
• W4306862036 cites W2743643029 @default.
• W4306862036 cites W2804062615 @default.
• W4306862036 cites W2809176836 @default.
• W4306862036 cites W2887064953 @default.
• W4306862036 cites W2901301756 @default.
• W4306862036 cites W2914482125 @default.
• W4306862036 cites W2944545583 @default.
• W4306862036 cites W2950468148 @default.
• W4306862036 cites W2951588804 @default.
• W4306862036 cites W2955503846 @default.
• W4306862036 cites W2959289532 @default.
• W4306862036 cites W2968722259 @default.
• W4306862036 cites W2969366465 @default.
• W4306862036 cites W2973590686 @default.
• W4306862036 cites W3017304736 @default.
• W4306862036 cites W3027179734 @default.
• W4306862036 cites W3031293807 @default.
• W4306862036 cites W3085219122 @default.
• W4306862036 cites W3089513473 @default.
• W4306862036 cites W3132765994 @default.
• W4306862036 cites W3157310412 @default.
• W4306862036 cites W3189548282 @default.
• W4306862036 cites W3198023898 @default.
• W4306862036 cites W3204469225 @default.
• W4306862036 cites W4244767238 @default.
• W4306862036 cites W4283755330 @default.
• W4306862036 cites W4294216483 @default.
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• W4306862036 doi "https://doi.org/10.1038/s41380-022-01826-x" @default.
• W4306862036 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36266569" @default.
• W4306862036 hasPublicationYear "2022" @default.

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