{"id":"W2008807795","doi":"10.1111/j.1399-0004.2009.01237.x","title":"Screening and instability of <i>FMR1</i> alleles in a prospective sample of 24,449 mother–newborn pairs from the general population","year":2009,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Université Laval; Hôpital Saint-François d'Assise","funders":"Canadian Institutes of Health Research","keywords":"Allele; Genetics; Fragile X syndrome; Offspring; Population; FMR1; Biology; Haplotype; Confidence interval; Medicine; Internal medicine; Pregnancy; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002673269,0.0001196619,0.0002163159,0.00001557834,0.00002953457,0.000007059778,0.0001569549,0.0001283579,0.000005132229],"category_scores_gemma":[0.0002604674,0.00009843269,0.00008009022,0.00008336909,0.0001562629,0.000001921846,0.0000978969,0.00009750887,1.263293e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003963874,"about_ca_system_score_gemma":0.00003409112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001737991,"about_ca_topic_score_gemma":0.0004579558,"domain_scores_codex":[0.9987542,0.0001251926,0.0005419086,0.0003241685,0.0001156581,0.0001388853],"domain_scores_gemma":[0.9993662,0.0001018262,0.0001534489,0.0002821172,0.00005004729,0.00004636989],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001327977,0.0001674756,0.9100871,0.000005599597,0.00002340241,2.033931e-7,0.00009952035,0.0003361611,0.0483065,0.00002736669,0.00005565946,0.04075819],"study_design_scores_gemma":[0.0007344537,0.0004207493,0.9839832,0.00001231058,0.00001276199,3.011434e-7,0.00008206809,0.0003531389,0.01177037,0.001803054,0.0007250981,0.0001025273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972771,0.0009778702,0.001139781,0.0001465766,0.00005130464,0.0002617369,0.00006179811,0.000002928629,0.0000809278],"genre_scores_gemma":[0.9791803,0.001084036,0.01929747,0.0003111942,0.00003282574,0.000003867077,0.00007066067,0.00001051177,0.000009085263],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07389605,"threshold_uncertainty_score":0.4013969,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03039241421232759,"score_gpt":0.3080253808655922,"score_spread":0.2776329666532646,"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."}}