{"id":"W4366774022","doi":"10.2337/figshare.22577353.v1","title":"Biallelic mutations in P4HTM cause syndromic obesity","year":2023,"lang":"en","type":"preprint","venue":"","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Windsor","funders":"Medical Research Council","keywords":"Missense mutation; Obesity; Genetics; Proband; Exome sequencing; Exome; Medicine; Gene; Biology; Bioinformatics; Internal medicine; Mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001285468,0.0007262401,0.0002432243,0.0005061544,0.0003395851,0.0002645855,0.0002701982,0.0004960693,0.001670737],"category_scores_gemma":[0.0005393858,0.0001842067,0.0003262481,0.0004892759,0.0003392041,0.0001013765,0.0004753087,0.0003384286,0.0002437001],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002263841,"about_ca_system_score_gemma":0.0002346847,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00174167,"about_ca_topic_score_gemma":0.002647326,"domain_scores_codex":[0.9998628,0.00001648351,0.0000146034,0.00004449185,0.00003927422,0.00002227534],"domain_scores_gemma":[0.9998407,0.00004111607,0.00007583961,0.000008260815,0.00000902272,0.00002500057],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001841405,0.0001204166,0.4158505,0.0005291,0.0005773178,0.1541883,0.0009448252,0.003772972,0.3649421,0.001849292,0.004851451,0.05053232],"study_design_scores_gemma":[0.0002122725,0.0003999416,0.7155408,0.0001833721,0.0004048349,0.2050556,0.0007768273,0.009823347,0.05578784,0.001529558,0.01021817,0.00006735814],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960151,0.0003943988,0.001575919,0.0001115069,0.0000179622,0.00001791566,0.001001103,0.00009254594,0.0007735951],"genre_scores_gemma":[0.9977285,0.0001429587,0.001355272,0.0000519162,0.000008862658,0.000006919402,0.0004353113,0.00001443931,0.0002557494],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00174167,"threshold_uncertainty_score":0.005589187,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04607389992214896,"score_gpt":0.3131781585345663,"score_spread":0.2671042586124174,"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."}}