{"id":"W2991559981","doi":"10.31887/dcns.2017.19.4/sscherer","title":"Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach","year":2017,"lang":"en","type":"article","venue":"Dialogues in Clinical Neuroscience","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":163,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; University of Toronto; Memorial University of Newfoundland","funders":"Canadian Institutes of Health Research","keywords":"Autism spectrum disorder; Autism; Copy-number variation; Genetic testing; Neurodevelopmental disorder; Exome sequencing; Tuberous sclerosis; Fragile X syndrome; Context (archaeology); Intellectual disability; Medicine; Genetic heterogeneity; Genetics; Mutation; Phenotype; Psychiatry; Biology; Gene; Genome; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0008660472,0.0002379198,0.0003698419,0.00006105003,0.0003472439,0.000275859,0.00142698,0.0002404928,0.000006991351],"category_scores_gemma":[0.003550308,0.0002335143,0.0002210773,0.0001057203,0.000455833,0.0000256707,0.0008993583,0.0002894084,0.00003556296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001653247,"about_ca_system_score_gemma":0.0001703579,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004950986,"about_ca_topic_score_gemma":0.0004265487,"domain_scores_codex":[0.9970942,0.0002091962,0.0008889022,0.001096852,0.0002147935,0.0004960151],"domain_scores_gemma":[0.998001,0.0001510834,0.0002975826,0.001304395,0.00001678945,0.0002291925],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000480437,0.001561858,0.9161404,0.00002724918,0.00003904622,0.00007731726,0.0003609069,0.0009319919,0.06658778,0.009490272,0.000315065,0.003987609],"study_design_scores_gemma":[0.001161511,0.0009068274,0.9837582,0.00002892196,0.00001959332,0.00001097317,0.00003042799,0.001322115,0.0008072401,0.009285463,0.002191849,0.0004768407],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9847208,0.00004914141,0.01007843,0.002002286,0.001117961,0.0003183911,0.00009066045,0.0000244039,0.001597982],"genre_scores_gemma":[0.9904049,0.0001989817,0.007147844,0.001739744,0.0002005931,0.0000476383,0.00005885645,0.0000258669,0.0001755741],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06761777,"threshold_uncertainty_score":0.9522435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0439343056189513,"score_gpt":0.3163915963017653,"score_spread":0.272457290682814,"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."}}