{"id":"W4403132138","doi":"10.1080/17501911.2024.2402681","title":"Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns","year":2024,"lang":"en","type":"article","venue":"Epigenomics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Ottawa Mental Health Centre","funders":"National Health and Medical Research Council; Financial Markets Foundation for Children","keywords":"Biology; Epigenomics; Intellectual disability; Autism; Genetics; Developmental psychology; DNA methylation; Psychology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006940429,0.0006637255,0.0005569893,0.001850923,0.00127119,0.0007807692,0.001021021,0.0004804005,0.002727914],"category_scores_gemma":[0.007808696,0.0005879544,0.0005412514,0.0008909782,0.000733805,0.0003307913,0.001730825,0.0004747183,0.0008573707],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001869026,"about_ca_system_score_gemma":0.004397747,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03456011,"about_ca_topic_score_gemma":0.04503064,"domain_scores_codex":[0.9950767,0.002193968,0.0004469725,0.0006964103,0.001314495,0.0002715053],"domain_scores_gemma":[0.9968076,0.0005795929,0.000370302,0.0005366704,0.001350585,0.0003553343],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003247821,0.001339344,0.3848585,0.001677239,0.0002564563,0.003481533,0.02164047,0.009568328,0.2027171,0.003834576,0.01132719,0.3560515],"study_design_scores_gemma":[0.0002449449,0.004225436,0.7947497,0.0003637669,0.0002335097,0.004725078,0.003553208,0.01686014,0.1126313,0.001713804,0.06049021,0.0002089545],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8045523,0.001071154,0.1305801,0.0009918445,0.0001302279,0.03620313,0.006428249,0.002048172,0.01799485],"genre_scores_gemma":[0.6491427,0.001357151,0.2992946,0.0009772347,0.00004615326,0.03004164,0.005469236,0.0002403573,0.01343099],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03456011,"threshold_uncertainty_score":0.0687179,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01465690797150794,"score_gpt":0.2678411948972008,"score_spread":0.2531842869256929,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}