{"id":"W1521169168","doi":"10.1093/pch/16.3.e23","title":"Amish, Mennonite, and Hutterite Genetic Disorder Database","year":2011,"lang":"en","type":"article","venue":"Paediatrics & Child Health","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; University of Toronto","funders":"","keywords":"Database; Mendelian inheritance; OMIM : Online Mendelian Inheritance in Man; Genealogy; History; Genetics; Biology; Gene; Computer science","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":[0.0002801026,0.000220433,0.00021172,0.00009053994,0.0002006515,0.00002148635,0.0002099268,0.0001044313,0.0000682996],"category_scores_gemma":[0.00002370061,0.0002160686,0.00005713692,0.0001772096,0.00008332134,0.000005426978,0.0001937791,0.0001323409,0.00002107013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000313149,"about_ca_system_score_gemma":0.000113718,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002872801,"about_ca_topic_score_gemma":0.0001835398,"domain_scores_codex":[0.9984229,0.0001002033,0.0003261792,0.0005198669,0.0001623744,0.0004684854],"domain_scores_gemma":[0.9989998,0.000008160944,0.0001319151,0.0005155578,0.0000440822,0.0003005282],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002227066,0.0008803807,0.7260954,0.0005817432,0.0001574784,0.0000151063,0.00222748,0.00001563322,0.001758977,0.001107041,0.0175792,0.2493588],"study_design_scores_gemma":[0.00215695,0.0005491005,0.6593553,0.00002123153,0.00007215042,0.00005101959,0.0003169574,0.00005281469,0.0002934488,0.0004666177,0.3359132,0.0007511473],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.883411,0.1029839,0.005536413,0.0004941772,0.0005230148,0.0006187298,0.0002258945,0.00004003496,0.006166874],"genre_scores_gemma":[0.8798394,0.09476963,0.01743297,0.006172821,0.0007841722,0.00004782289,0.0005163006,0.00008056515,0.0003563458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.318334,"threshold_uncertainty_score":0.8811021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01036931406063665,"score_gpt":0.2374333529288918,"score_spread":0.2270640388682551,"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."}}