{"id":"W1983226769","doi":"10.1016/j.ajhg.2013.06.005","title":"Mutations in PIK3R1 Cause SHORT Syndrome","year":2013,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":197,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary; University of Alberta; McGill University and Génome Québec Innovation Centre; University of Ottawa","funders":"Canadian Institutes of Health Research; Cancer Research UK","keywords":"Medicine; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.00009711105,0.001014735,0.0004853302,0.0005888172,0.0002295573,0.0002082251,0.0002553943,0.0005612757,0.002220327],"category_scores_gemma":[0.0005458258,0.0001907744,0.0003597387,0.0005156443,0.0003703582,0.0001232471,0.000480414,0.000299247,0.0005142625],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000376191,"about_ca_system_score_gemma":0.0001960278,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002639568,"about_ca_topic_score_gemma":0.002452378,"domain_scores_codex":[0.9998232,0.00001511147,0.00002186522,0.00004454264,0.00006938919,0.00002602889],"domain_scores_gemma":[0.9997792,0.0000622831,0.00007595399,0.000007930227,0.00001721072,0.00005755869],"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":[0.00104613,0.00008033972,0.09915879,0.0004707377,0.0004843206,0.2737063,0.0009755953,0.001677176,0.5693551,0.001571745,0.003709984,0.04776387],"study_design_scores_gemma":[0.0003786045,0.0006561061,0.434957,0.0001796214,0.0005945428,0.4566205,0.0004689324,0.004863349,0.07686071,0.001592003,0.022715,0.0001135825],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919682,0.001714661,0.002627387,0.0002057249,0.00004711922,0.00003617406,0.0009765227,0.0002429839,0.002181121],"genre_scores_gemma":[0.9968014,0.0005295953,0.001076576,0.00009286071,0.00002321604,0.00001512524,0.0005538185,0.0000298037,0.0008777194],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002639568,"threshold_uncertainty_score":0.007427752,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01338174604193142,"score_gpt":0.2592553727260485,"score_spread":0.2458736266841171,"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."}}