{"id":"W2166567981","doi":"10.1093/hmg/11.4.371","title":"Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles","year":2002,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":291,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital Saint-François d'Assise; Université Laval","funders":"","keywords":"FMR1; Allele; Biology; Fragile X syndrome; Haplotype; Genetics; Population; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001469647,0.0001641276,0.0001553442,0.00005063877,0.0000471751,0.00002610381,0.0002347525,0.000111364,0.00005367207],"category_scores_gemma":[0.00002367348,0.0001344564,0.00005568963,0.00008922083,0.0001006659,0.000006906266,0.00009166177,0.00007988115,9.979765e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001045696,"about_ca_system_score_gemma":0.000009688193,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001419323,"about_ca_topic_score_gemma":0.001058408,"domain_scores_codex":[0.9987217,0.0002014768,0.0004220534,0.0003071936,0.0001977774,0.0001497709],"domain_scores_gemma":[0.9994485,0.00001429383,0.0001587072,0.0003081222,0.00004208023,0.00002829498],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00003345142,0.0002397112,0.02263178,0.00002918579,0.00004806414,0.00001512886,0.002805353,0.006915799,0.9640148,0.00003992473,0.0001118089,0.00311504],"study_design_scores_gemma":[0.0008272401,0.000469186,0.9430958,0.00003659381,0.00002708882,0.000010455,0.0002757329,0.009205432,0.0450056,0.0006634669,0.0001655646,0.0002178451],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976294,0.001721924,0.0001385024,0.000110682,0.00003458883,0.0003043175,0.00003281129,0.000002488242,0.00002528208],"genre_scores_gemma":[0.9978929,0.0007316935,0.0006089273,0.0002335201,0.00002101665,0.00002634972,0.0004351471,0.00002112227,0.00002932304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.920464,"threshold_uncertainty_score":0.5482973,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02516658764279783,"score_gpt":0.2704092031202543,"score_spread":0.2452426154774565,"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."}}