{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009820624,0.0001668228,0.0001259912,0.00004462857,0.00009184489,0.00006819143,0.0001000091,0.00008896656,0.00001899557],"category_scores_gemma":[0.00004297767,0.0001598765,0.00004443768,0.00008671107,0.0001790071,0.000003950077,0.00006144087,0.0001017483,0.000003410322],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003026882,"about_ca_system_score_gemma":0.0000864817,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004338315,"about_ca_topic_score_gemma":0.0008598472,"domain_scores_codex":[0.9990595,0.00002229755,0.0001707972,0.0004365494,0.00004596041,0.0002649024],"domain_scores_gemma":[0.9996898,0.0000466758,0.00002073196,0.0001588542,0.00001506465,0.00006891412],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001342324,0.0003876347,0.04020416,0.0005998656,0.0005335747,0.00004426177,0.003213465,0.005789159,0.7933616,0.002188811,0.01875983,0.1335753],"study_design_scores_gemma":[0.001480366,0.0009836397,0.6703855,0.00009920632,0.00008505873,0.00007052904,0.0009975078,0.001051488,0.02728993,0.001477181,0.2951567,0.0009229782],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988046,0.0007619328,0.009694243,0.0005362516,0.0001084168,0.0004379884,0.0002051556,0.00001633743,0.0001936891],"genre_scores_gemma":[0.9904307,0.0002222384,0.00815296,0.0001070641,0.00004019128,0.00005013678,0.0003156012,0.00003624697,0.0006448238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7660717,"threshold_uncertainty_score":0.6519576,"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."}}