{"id":"W1973017744","doi":"10.1002/ajmg.a.30191","title":"Paternal transmission of fragile X syndrome","year":2004,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; Queen's University; McMaster University; Hamilton Health Sciences; Hamilton Regional Laboratory Medicine Program","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","keywords":"Allele; Fragile X syndrome; Genetics; Daughter; Mutation; Biology; Sperm; FMR1; Peripheral blood; Gene; Immunology","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":[0.0002861406,0.00012928,0.000263467,0.00005839518,0.00002731791,0.0000069492,0.0003958759,0.00008239505,0.00006702665],"category_scores_gemma":[0.00004718467,0.0001079367,0.000144262,0.0001215921,0.0002972492,0.000001750052,0.00006816588,0.0001589988,0.000003145254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008349072,"about_ca_system_score_gemma":0.0002932523,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009334935,"about_ca_topic_score_gemma":0.000003509708,"domain_scores_codex":[0.9983504,0.00005130387,0.0005129708,0.0001528908,0.0007298724,0.0002026074],"domain_scores_gemma":[0.999119,0.000009443071,0.0003014668,0.0001486188,0.0001007277,0.0003206968],"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":[0.0004601304,0.001097688,0.009006904,0.00007574182,0.0004089099,0.0003104662,0.0005638925,0.003671664,0.6607362,0.00004254425,0.00149515,0.3221307],"study_design_scores_gemma":[0.01048595,0.03011484,0.1896937,0.0008809236,0.0002005612,0.004008105,0.001150015,0.0001611727,0.5626897,0.001273351,0.1980528,0.001288831],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908372,0.001189476,0.00701016,0.0006621219,0.0001818575,0.00004827619,0.00000512356,0.00000171066,0.00006409686],"genre_scores_gemma":[0.991812,0.004220854,0.00349393,0.0003847834,0.00004209385,0.000001308806,0.000006406764,0.00001904607,0.00001960766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3208419,"threshold_uncertainty_score":0.4401531,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006981713890274487,"score_gpt":0.2479438643976529,"score_spread":0.2409621505073784,"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."}}