{"id":"W2615281366","doi":"10.3389/fendo.2017.00107","title":"The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings","year":2017,"lang":"en","type":"article","venue":"Frontiers in Endocrinology","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Friends of Tel Aviv University","keywords":"Medicine; Exome sequencing; Autism; Pediatrics; Craniofacial; Camptodactyly; Bioinformatics; Genetics; Phenotype; Biology; Surgery; Gene; Psychiatry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001452778,0.0001331741,0.0003036024,0.000227465,0.0004183607,0.00008846514,0.0003847599,0.00004548757,0.000002794172],"category_scores_gemma":[0.002318494,0.00011595,0.00001637673,0.0001420929,0.0009522883,0.000137299,0.0004592725,0.000226131,6.131238e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004984468,"about_ca_system_score_gemma":0.0001172512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004125194,"about_ca_topic_score_gemma":0.0001597551,"domain_scores_codex":[0.9985638,0.0001031799,0.0002597428,0.0003947037,0.0001540459,0.0005244993],"domain_scores_gemma":[0.9989374,0.0003586134,0.0002102559,0.0003607872,0.00001384941,0.0001190849],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002232452,0.00002826516,0.4942751,0.00008418402,0.00002783294,0.0002114039,0.003152047,0.0001508333,0.3946136,0.002772326,0.0003214231,0.1041398],"study_design_scores_gemma":[0.00482048,0.0009409782,0.7618254,0.0002413594,0.00003562963,0.0004042504,0.001601061,0.003263129,0.2022695,0.02099823,0.003129296,0.0004706467],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922326,0.002255015,0.0008792135,0.003829923,0.0001848226,0.0003330219,0.000003847681,0.00001176508,0.0002698134],"genre_scores_gemma":[0.9810362,0.001546397,0.01720524,0.00004326434,0.00001510135,0.00001262268,1.509819e-7,0.00001856708,0.0001224896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2675504,"threshold_uncertainty_score":0.4728302,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0776074219001059,"score_gpt":0.3130394240353545,"score_spread":0.2354320021352486,"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."}}