{"id":"W4392588876","doi":"10.1016/j.gimo.2024.101191","title":"P295: Expanding the prenatal phenotype of a rare syndrome due to variants in DPH1","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; University of British Columbia","funders":"","keywords":"Phenotype; Genetics; Medicine; Biology; Gene","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":[0.0001087227,0.0009086165,0.000291053,0.0008291625,0.0004505208,0.0003293856,0.0004671837,0.001151127,0.004210826],"category_scores_gemma":[0.0008547817,0.0002396987,0.0002551455,0.0004426622,0.0006523755,0.0003539749,0.0008138558,0.0006476769,0.000785889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002452001,"about_ca_system_score_gemma":0.0003250839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00169885,"about_ca_topic_score_gemma":0.00123204,"domain_scores_codex":[0.9997739,0.00002360599,0.00001940539,0.00007124824,0.00007114802,0.00004061012],"domain_scores_gemma":[0.9996731,0.0001291587,0.00006464748,0.00001931795,0.00002280472,0.00009106466],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00008536629,0.00003063252,0.009356208,0.0000600722,0.00001028144,0.9369693,0.0002543128,0.0001930484,0.04187154,0.0009988024,0.0005576722,0.009612662],"study_design_scores_gemma":[0.00001521649,0.00006822812,0.01669065,0.00001996068,0.00002100257,0.9636403,0.00007098812,0.000528094,0.01555522,0.0004623214,0.002913609,0.00001453839],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9818248,0.001020628,0.005082559,0.0006147967,0.0001388946,0.00004419808,0.0004830742,0.000181325,0.01060968],"genre_scores_gemma":[0.9940766,0.0004075761,0.002819916,0.0001454251,0.00009072851,0.00001468087,0.0001910106,0.00004198901,0.002212009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004210826,"threshold_uncertainty_score":0.0140866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02163258067680827,"score_gpt":0.3134563342496481,"score_spread":0.2918237535728398,"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."}}