{"id":"W2012134666","doi":"10.1136/jmg.37.1.77","title":"Absence of fragile X syndrome in Nova Scotia","year":2000,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"Faculty of Medicine, Dalhousie University; Dalhousie University; Medical Research Council Canada; Institut National de la Santé et de la Recherche Médicale; University of Otago; Medical Research Council; Dunhill Medical Trust; Dalhousie Medical Research Foundation","keywords":"Fragile X syndrome; Allele; Genetics; FMR1; Biology; Fragile x; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003243115,0.0003582231,0.000327993,0.0009460368,0.001111004,0.0006095535,0.0004989348,0.003035709,0.004003686],"category_scores_gemma":[0.003055548,0.0002414802,0.0001975868,0.0005496754,0.0008090883,0.0002332201,0.0003966869,0.0014705,0.0007449293],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001829095,"about_ca_system_score_gemma":0.001328867,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1726567,"about_ca_topic_score_gemma":0.2506493,"domain_scores_codex":[0.999684,0.00004197688,0.00003769571,0.00006840396,0.00007332944,0.00009469123],"domain_scores_gemma":[0.9990349,0.0003375825,0.0001281786,0.00004951729,0.0001556318,0.0002941966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008614499,0.0001277047,0.4685684,0.0001982276,0.00008675586,0.4055378,0.000604079,0.0005634074,0.002513561,0.001638072,0.09827677,0.02102359],"study_design_scores_gemma":[0.000213319,0.0001232123,0.7723281,0.0004661058,0.0001164779,0.2047947,0.0007147609,0.001436746,0.0004291454,0.001477037,0.01784349,0.00005697864],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7828846,0.006493894,0.000347051,0.125507,0.004544858,0.0001044279,0.001746454,0.00006204317,0.07830958],"genre_scores_gemma":[0.9610803,0.002512611,0.0002132331,0.01848625,0.002552225,0.00002444817,0.00035557,0.00002118146,0.01475407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8273433,"threshold_uncertainty_score":0.3433034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01172815865070758,"score_gpt":0.2533258698655667,"score_spread":0.2415977112148591,"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."}}