{"id":"W4366602405","doi":"10.2337/db22-1017","title":"Biallelic Mutations in <i>P4HTM</i> Cause Syndromic Obesity","year":2023,"lang":"en","type":"article","venue":"Diabetes","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Windsor","funders":"Medical Research Council; Pakistan Academy of Sciences; Agence Nationale de la Recherche; CHIST-ERA; Natural Sciences and Engineering Research Council of Canada; European Commission; Alliance de recherche numérique du Canada; Conseil Régional Hauts-de-France; National Institute for Health and Care Research; NIHR Cambridge Biomedical Research Centre; Wellcome Trust","keywords":"Missense mutation; Obesity; Genetics; Proband; Exome; Exome sequencing; Medicine; Biology; Bioinformatics; Gene; Internal medicine; Mutation","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":[0.0001559679,0.0004700827,0.0002597158,0.0004126734,0.0002707916,0.0002749927,0.0002661458,0.0003384218,0.001773602],"category_scores_gemma":[0.0005635467,0.0001531914,0.0005169518,0.0004529499,0.0001964395,0.000101315,0.000324906,0.0002601743,0.0003079462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001855183,"about_ca_system_score_gemma":0.0002644168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002033473,"about_ca_topic_score_gemma":0.004268143,"domain_scores_codex":[0.9998887,0.00001528934,0.00001047806,0.00003961813,0.00002779783,0.0000181347],"domain_scores_gemma":[0.9998605,0.00004533381,0.00005846835,0.000009661425,0.000009151337,0.00001673103],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001790615,0.0001237882,0.6459984,0.0005742023,0.0009510014,0.02009752,0.0004660903,0.01314564,0.2515714,0.001247746,0.00332095,0.06071264],"study_design_scores_gemma":[0.0001870655,0.0003806018,0.8545207,0.000121834,0.000592279,0.03619548,0.0005002067,0.04686819,0.05044695,0.001848736,0.008266105,0.00007191524],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924484,0.0003400567,0.004456294,0.00006568809,0.00001234382,0.00002351335,0.001850342,0.000172925,0.0006304545],"genre_scores_gemma":[0.9934348,0.0001543023,0.004677597,0.00003805383,0.000006002764,0.00001181707,0.001430459,0.00002562598,0.000221352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002033473,"threshold_uncertainty_score":0.005933285,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01552636639933021,"score_gpt":0.2609365634660388,"score_spread":0.2454101970667086,"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."}}