{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008746083,0.0001557228,0.0001420772,0.0001120709,0.00007929844,0.00001443168,0.0001668234,0.0001478165,0.00001323502],"category_scores_gemma":[0.00008302514,0.0001723541,0.00007906739,0.0001349318,0.0001992734,0.000005448912,0.00005908632,0.00006038011,0.000001594494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002403902,"about_ca_system_score_gemma":0.00007090459,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001736397,"about_ca_topic_score_gemma":0.000173957,"domain_scores_codex":[0.9989164,0.00004252089,0.0003191941,0.0003660166,0.0001355327,0.0002203331],"domain_scores_gemma":[0.9993368,0.000007633112,0.0001798326,0.0002481559,0.0001647819,0.00006284473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003723112,0.0001292652,0.139543,0.00009206947,0.0001178646,9.55986e-7,0.004671016,0.001676564,0.7545521,0.000004564307,0.004762982,0.09407724],"study_design_scores_gemma":[0.001428397,0.001458557,0.4209908,0.00004946566,0.00004256559,0.000002522618,0.001938886,0.01563215,0.5543042,0.000627842,0.003087145,0.0004374897],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9036483,0.0004849718,0.09448792,0.00002121032,0.0006042294,0.0004297195,0.0002570851,0.000005967853,0.00006058445],"genre_scores_gemma":[0.9644038,0.0006771383,0.03455608,0.00007772799,0.00003905964,0.00003836445,0.00007851137,0.00002741393,0.0001018836],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2814478,"threshold_uncertainty_score":0.7028397,"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."}}