{"id":"W2903930442","doi":"10.3389/fgene.2018.00606","title":"Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers","year":2018,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Azrieli Foundation","keywords":"FMR1; Fragile X syndrome; Genetics; Allele; Mutation; Trinucleotide repeat expansion; Population; Intellectual disability; Biology; Medicine; Gene; Environmental health","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":[0.0004531773,0.0002990755,0.000188852,0.0007112487,0.0003577706,0.000349896,0.0002986561,0.0003672792,0.003095872],"category_scores_gemma":[0.00164633,0.0001510692,0.0001614953,0.0004722677,0.0002245536,0.0001764851,0.0001846965,0.0003493473,0.0003153211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001400692,"about_ca_system_score_gemma":0.0001934814,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00239434,"about_ca_topic_score_gemma":0.001669716,"domain_scores_codex":[0.999781,0.00005822445,0.00002060616,0.00005990123,0.00004621059,0.00003405237],"domain_scores_gemma":[0.9993016,0.0002348189,0.0002650549,0.00003200643,0.00005141971,0.0001151335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009844388,0.00002654921,0.9973559,0.000003866876,0.00001130279,0.0002602417,0.00006936234,0.0000220138,0.0004234017,0.00001645845,0.0000889435,0.00162353],"study_design_scores_gemma":[0.000007306239,0.0001342657,0.9965654,0.0000119983,0.00002834834,0.002205994,0.0002028579,0.0003716415,0.0002564966,0.00003390506,0.0001770644,0.000004752474],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995105,0.00007435342,0.0000283497,0.00003424734,0.000001945658,0.000003140613,0.00006321158,0.000002428262,0.0002818876],"genre_scores_gemma":[0.9996843,0.00005303811,0.00005548125,0.00001358842,0.000005685193,0.000003044142,0.00007763728,0.000001414416,0.00010578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003095872,"threshold_uncertainty_score":0.01035672,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01023234574493316,"score_gpt":0.2534986205285133,"score_spread":0.2432662747835801,"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."}}