{"id":"W2000075718","doi":"10.1002/ajmg.a.32959","title":"Mosaic trisomy 1q: The longest surviving case","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Autopsy; Polyhydramnios; Medicine; Anatomy; Trisomy; Hypoplasia; Corpus callosum; Karyotype; Pathology; Biology; Gestation; Chromosome; Pregnancy; Genetics","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":[0.0008228025,0.000124701,0.0002105655,0.00003403064,0.000111963,0.00003353378,0.0003927501,0.00007405581,0.00008340502],"category_scores_gemma":[0.0001908729,0.00008407294,0.0001300688,0.0001272952,0.0002427969,0.000002877666,0.00006140555,0.0002220553,0.000004678257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001175554,"about_ca_system_score_gemma":0.0002565225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000250768,"about_ca_topic_score_gemma":0.00003109303,"domain_scores_codex":[0.9985642,0.0001779663,0.0004435746,0.000129773,0.0004497722,0.0002347309],"domain_scores_gemma":[0.9990258,0.00005262735,0.0003067433,0.000246203,0.0001315776,0.0002370213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004376868,0.001076288,0.02659698,0.00003056119,0.0009495744,0.004240815,0.004104432,0.001760178,0.0181543,0.0008361907,0.05148009,0.8903329],"study_design_scores_gemma":[0.003811237,0.01327462,0.0224498,0.0001778716,0.0004479173,0.07316796,0.01493026,0.0009007895,0.02056916,0.000624825,0.8484548,0.001190804],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920679,0.001713863,0.001792697,0.00391796,0.0002444045,0.00005320636,0.000008286462,0.000002972053,0.000198718],"genre_scores_gemma":[0.9957582,0.001267681,0.0006059635,0.001320097,0.0009070531,0.000001667953,0.000006794266,0.00001024662,0.0001222757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8891421,"threshold_uncertainty_score":0.3428395,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009277614167790483,"score_gpt":0.2618082900584167,"score_spread":0.2525306758906262,"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."}}