{"id":"W2088640792","doi":"10.1002/ajmg.a.20373","title":"Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat","year":2003,"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":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Lissencephaly; Monosomy; Chromosomal translocation; Biology; Derivative chromosome; Genetics; Trisomy; Chromosome 17 (human); Chromosome; Karyotype; Chromosome 15; Gene","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":[0.0001536138,0.00161133,0.000494936,0.00125301,0.0005355061,0.0004299193,0.0003690008,0.001422706,0.005953414],"category_scores_gemma":[0.0007428235,0.0005462564,0.0003583735,0.001174252,0.0006994575,0.0003455959,0.0004796702,0.0006144599,0.001521298],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004501111,"about_ca_system_score_gemma":0.0004335823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009458714,"about_ca_topic_score_gemma":0.001318586,"domain_scores_codex":[0.999814,0.00002369843,0.000021883,0.00004990026,0.00005259226,0.00003800449],"domain_scores_gemma":[0.9996871,0.00007563164,0.0001487637,0.00001785783,0.00001355853,0.0000571511],"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":[0.0005320443,0.0001130005,0.0270741,0.0001171265,0.0000770265,0.8627812,0.0004146166,0.000360419,0.0934265,0.001391284,0.001119894,0.01259278],"study_design_scores_gemma":[0.00008482749,0.0002330664,0.03418238,0.00002008567,0.00008788244,0.9394681,0.00008377959,0.0006856246,0.0204896,0.00072379,0.003923498,0.00001741604],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897888,0.0009240474,0.002749859,0.0004311499,0.00009110224,0.00004802958,0.0003173685,0.0004275824,0.005222128],"genre_scores_gemma":[0.9945638,0.0006383571,0.001565323,0.0001210584,0.00009416015,0.0000291302,0.0002287373,0.00005179665,0.002707674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005953414,"threshold_uncertainty_score":0.01991612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006919529145779211,"score_gpt":0.238356926031825,"score_spread":0.2314373968860458,"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."}}