{"id":"W1988415583","doi":"10.1002/ajmg.a.35568","title":"Life‐history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome","year":2012,"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":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; BC Cancer Agency; University of British Columbia","funders":"Faculty of Medicine, University of British Columbia; Child and Family Research Institute","keywords":"Hypotonia; Natural history; Microdeletion syndrome; Family history; Intellectual disability; Medicine; Pediatrics; Chromosome; Genetics; Biology; Gene; Internal medicine; Psychiatry","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":[0.0001168583,0.0003903252,0.0002163657,0.0008302412,0.001356381,0.0003216196,0.0001859635,0.0008072151,0.003277],"category_scores_gemma":[0.0005362905,0.0001622426,0.0002513154,0.0003105246,0.0003847994,0.0004094941,0.0003981297,0.001024908,0.0005085737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003717676,"about_ca_system_score_gemma":0.0003363751,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002403398,"about_ca_topic_score_gemma":0.004112622,"domain_scores_codex":[0.9999079,0.00001788108,0.000006034362,0.00001860445,0.00001548784,0.00003405023],"domain_scores_gemma":[0.9995722,0.0001089652,0.00007868931,0.00001963724,0.00003345434,0.00018699],"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":[0.0003185094,0.0002681233,0.1060869,0.00004191434,0.00003337687,0.8536717,0.001316173,0.0001817167,0.01800356,0.000786576,0.002811378,0.01648],"study_design_scores_gemma":[0.00002287154,0.0007072582,0.0819578,0.00002448265,0.00004451457,0.9064751,0.0004888147,0.0005750928,0.003466906,0.0004834226,0.005710279,0.00004350036],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987135,0.001190716,0.001049797,0.002868595,0.0001209895,0.00003121136,0.0003536236,0.00007625863,0.007173851],"genre_scores_gemma":[0.994989,0.0004679963,0.0004778142,0.0004985821,0.0000673082,0.000009566409,0.0001515905,0.00001540765,0.003322827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003277,"threshold_uncertainty_score":0.01096267,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01221964506904658,"score_gpt":0.222103734068993,"score_spread":0.2098840889999464,"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."}}