{"id":"W2042460778","doi":"10.1159/000335648","title":"Update on Kleefstra Syndrome","year":2011,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":179,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"ZonMw","keywords":"Hypotonia; Intellectual disability; Phenotype; Medicine; Genetics; Microdeletion syndrome; Bioinformatics; Pediatrics; Gene; Biology; Psychiatry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001137716,0.0002153578,0.0001906391,0.00007713733,0.00008301083,0.00001288964,0.0003088258,0.0002176356,0.0004945007],"category_scores_gemma":[0.00002277088,0.0002167699,0.0001271358,0.00007918304,0.0001076231,0.000003363593,0.0001230078,0.0001140521,0.0004101356],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001401462,"about_ca_system_score_gemma":0.00005225221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003569038,"about_ca_topic_score_gemma":0.000006814573,"domain_scores_codex":[0.9987562,0.0001027769,0.0002325008,0.0004321321,0.0001013327,0.000375089],"domain_scores_gemma":[0.9992161,0.000004144968,0.00007349801,0.0005571749,0.000045351,0.0001037797],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001151937,0.002826174,0.01077124,0.0001876904,0.002515855,0.06950943,0.001367535,0.0004679771,0.5199475,0.3782079,0.008136229,0.004910553],"study_design_scores_gemma":[0.003736794,0.009844711,0.03804001,0.00006232112,0.000262952,0.1307029,0.0003449877,0.00004215012,0.73513,0.02001771,0.0590416,0.002773854],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.980774,0.000158261,0.00237207,0.000094439,0.0002701657,0.0001441169,0.00002296419,0.00003119067,0.01613282],"genre_scores_gemma":[0.9963,0.00002228915,0.001719189,0.0009333601,0.00003310432,0.00004191558,0.0001117168,0.00003775761,0.000800644],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3581902,"threshold_uncertainty_score":0.8839622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01242051959825337,"score_gpt":0.2007982887415244,"score_spread":0.188377769143271,"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."}}