{"id":"W2037372531","doi":"10.1002/ajmg.a.32752","title":"A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations","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":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Savoy Foundation","keywords":"Breakpoint; Comparative genomic hybridization; Phenotype; Genetics; Fluorescence in situ hybridization; Biology; Chromosome; Genotype; Genetic counseling; 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":[0.0002387674,0.0008497642,0.0007346831,0.0009971575,0.00054319,0.0003167439,0.0002077945,0.0006167744,0.001658616],"category_scores_gemma":[0.001594939,0.0002694165,0.0002289627,0.0005525334,0.0005939138,0.0003370437,0.0004117396,0.0005853276,0.0002802532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002036618,"about_ca_system_score_gemma":0.0002578911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009382005,"about_ca_topic_score_gemma":0.0008388549,"domain_scores_codex":[0.9997928,0.00004395726,0.0000210533,0.00005355226,0.00004856358,0.00004018785],"domain_scores_gemma":[0.9994465,0.0002697697,0.00007521902,0.00002320056,0.00003825521,0.0001471406],"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":[0.0005602629,0.0002305623,0.3400673,0.00009370919,0.00007721846,0.5958713,0.001565794,0.001021225,0.04655919,0.000815327,0.0007336347,0.01240458],"study_design_scores_gemma":[0.00008139684,0.000786272,0.2449075,0.00003325726,0.00009790807,0.7436658,0.0005240711,0.001337986,0.00552138,0.0006788471,0.00232085,0.00004460111],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978408,0.0002310221,0.000503951,0.0001748688,0.00001246398,0.00001232142,0.0001135733,0.00002213471,0.001088917],"genre_scores_gemma":[0.9983829,0.0003255234,0.0007369459,0.00006131034,0.00002546052,0.0000114464,0.0001665463,0.00001544096,0.0002744473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001658616,"threshold_uncertainty_score":0.005548656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00551059116019396,"score_gpt":0.2308056630744792,"score_spread":0.2252950719142852,"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."}}