{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005530013,0.0003632868,0.0004115084,0.0008269558,0.0006453373,0.00047488,0.0003262457,0.0004657524,0.001514778],"category_scores_gemma":[0.002864572,0.0005255453,0.0002016203,0.0004977873,0.0004301739,0.0003271184,0.0003520774,0.0004526995,0.0004430237],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001605832,"about_ca_system_score_gemma":0.0001507589,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004029775,"about_ca_topic_score_gemma":0.002519852,"domain_scores_codex":[0.9994231,0.0001561254,0.00004380733,0.0001968781,0.0001055933,0.0000744897],"domain_scores_gemma":[0.9989742,0.0002798204,0.0003177725,0.0001408778,0.0001201578,0.000167201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007997791,0.00003438393,0.996788,0.000006995686,0.00002126141,0.0002575055,0.0001822044,0.00001892541,0.001109455,0.00001334335,0.00007743398,0.001410426],"study_design_scores_gemma":[0.0000101385,0.0002868432,0.9972358,0.00000385855,0.00002698779,0.001696005,0.0001709293,0.0001046049,0.0002408451,0.00001228613,0.0002068915,0.000004894957],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995671,0.00007149029,0.0001003396,0.000009688443,0.000001609375,0.000007839029,0.00009880224,0.000003576648,0.0001395916],"genre_scores_gemma":[0.9991288,0.000117178,0.0002007461,0.0000406512,0.000008344962,0.00001782528,0.000244156,0.000003229603,0.0002391896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004029775,"threshold_uncertainty_score":0.008012652,"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."}}