{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001992447,0.001120375,0.0006688184,0.001088669,0.0006715578,0.0004702061,0.00044528,0.00161414,0.001673235],"category_scores_gemma":[0.001208626,0.0003994404,0.0002968897,0.0005406007,0.0006373203,0.000459391,0.0006083698,0.0006813558,0.0005310564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000207123,"about_ca_system_score_gemma":0.0002892218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006752618,"about_ca_topic_score_gemma":0.0005684529,"domain_scores_codex":[0.9997633,0.00002800934,0.00002730363,0.00008915011,0.00003737556,0.00005479713],"domain_scores_gemma":[0.9995838,0.0001276422,0.00007301263,0.00002047771,0.00002934289,0.0001657992],"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":[0.0001755545,0.00007171591,0.06028035,0.00003847124,0.00001746057,0.8971975,0.0006378971,0.0002180153,0.03682473,0.0002370941,0.0004588588,0.003842423],"study_design_scores_gemma":[0.00003140088,0.0002714848,0.04444494,0.00001317654,0.00003447085,0.9471375,0.0002069468,0.0004359115,0.004885347,0.0001886509,0.002324687,0.00002562889],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968561,0.0004875691,0.0008623626,0.0003129093,0.00002889397,0.00003255975,0.0002737342,0.00005368708,0.001092253],"genre_scores_gemma":[0.9978629,0.0003355002,0.0007041762,0.0001094609,0.00005568554,0.00002117581,0.0002800623,0.00001689446,0.000614148],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001673235,"threshold_uncertainty_score":0.005597472,"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."}}