{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002174126,0.000643944,0.0006088333,0.0007275302,0.001729608,0.0005160804,0.0008167669,0.001621184,0.002470992],"category_scores_gemma":[0.001458505,0.0003466927,0.000599924,0.0004971829,0.000564823,0.0007690327,0.0009926386,0.0008741698,0.0007376014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003302267,"about_ca_system_score_gemma":0.0003583396,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007916915,"about_ca_topic_score_gemma":0.001197717,"domain_scores_codex":[0.9997666,0.00001897479,0.0000215419,0.0000634491,0.0000366061,0.00009282606],"domain_scores_gemma":[0.9991866,0.0001211222,0.0001878654,0.00005304149,0.0000453981,0.0004060216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009135887,0.00004626612,0.0668055,0.00005453545,0.00002680273,0.9102529,0.001300515,0.0001972703,0.008072418,0.0004515419,0.0007273321,0.01197357],"study_design_scores_gemma":[0.000009234064,0.0002372626,0.03084244,0.0000205704,0.00003079096,0.9645776,0.0003324404,0.0001692506,0.0008872131,0.000316461,0.00255257,0.0000241604],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947339,0.001607078,0.0007898057,0.0005409733,0.00008720419,0.00001238251,0.0002376476,0.00008613778,0.001904852],"genre_scores_gemma":[0.9971057,0.0007945801,0.0004827155,0.0001506743,0.0001138733,0.00001120849,0.0001431697,0.00002563259,0.001172421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002470992,"threshold_uncertainty_score":0.00826633,"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."}}