{"id":"W1985949281","doi":"10.1159/000370081","title":"Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome","year":2014,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Core Research for Evolutional Science and Technology; Health Canada; Instituto Mexicano del Seguro Social","keywords":"Phenotype; Breakpoint; Genetics; Biology; Chromosomal region; Gene; Chromosome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004578377,0.00008822493,0.000140823,0.00006253298,0.00008973387,0.00002254528,0.00007100007,0.00009491525,0.00001137421],"category_scores_gemma":[0.00003111119,0.00007518946,0.00002481273,0.00008248891,0.0002644146,0.000002981352,0.0001204462,0.00007706162,0.000002526108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004355247,"about_ca_system_score_gemma":0.00005110345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001130601,"about_ca_topic_score_gemma":0.000003302792,"domain_scores_codex":[0.9989513,0.0001993389,0.0002186906,0.0002751772,0.0001604536,0.0001950557],"domain_scores_gemma":[0.9994596,0.00001643942,0.00005410475,0.0002116423,0.0001590729,0.00009909632],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001047866,0.0000704924,0.03742851,0.00008073752,0.00005979909,0.000005909976,0.0001479117,0.0000156254,0.9542401,0.0007338978,0.000002814249,0.007109353],"study_design_scores_gemma":[0.001918744,0.007918829,0.7938377,0.00007604512,0.00006137963,0.0005265858,0.0004842664,0.0002199216,0.1730169,0.0006829716,0.02074193,0.0005147783],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968063,0.00044241,0.002222202,0.00007724336,0.00001442379,0.000194013,0.00001411096,0.000002939812,0.0002264216],"genre_scores_gemma":[0.9985574,0.0005644367,0.0005811705,0.00003987535,0.00003896846,0.00002181936,0.00007870865,0.00001353766,0.0001040339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7812233,"threshold_uncertainty_score":0.3066137,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01719870096304026,"score_gpt":0.2851588754305548,"score_spread":0.2679601744675145,"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."}}