{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002407961,0.0005215137,0.0003667124,0.00128514,0.001898957,0.001980846,0.0007603604,0.00287469,0.00863828],"category_scores_gemma":[0.008071003,0.000266595,0.0004903773,0.0006149914,0.001895109,0.00243353,0.001886413,0.004738332,0.00215815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001432622,"about_ca_system_score_gemma":0.00264552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005977992,"about_ca_topic_score_gemma":0.006588876,"domain_scores_codex":[0.9987735,0.0003791368,0.0001127884,0.0003053109,0.0002884275,0.000140841],"domain_scores_gemma":[0.9929335,0.002174885,0.0006787332,0.0006191023,0.001586762,0.002007132],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0003483213,0.0005089079,0.2416978,0.0007304035,0.00019996,0.05756589,0.00441701,0.0005215107,0.01177193,0.02925186,0.190683,0.4623033],"study_design_scores_gemma":[0.00003940184,0.0005529656,0.1008572,0.003804417,0.0002259293,0.2517644,0.0142148,0.001383508,0.004338868,0.06455441,0.5580795,0.000184425],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4025009,0.09567876,0.02011215,0.3932461,0.007364682,0.0001548938,0.00259026,0.001173381,0.07717889],"genre_scores_gemma":[0.8005348,0.06975684,0.03045635,0.06078402,0.003590218,0.0001130554,0.001972659,0.0004093407,0.03238269],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00863828,"threshold_uncertainty_score":0.02889794,"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."}}