{"id":"W4414614684","doi":"10.1186/s13073-025-01529-2","title":"Adult genomic medicine: lessons from a multisite study of 2700 patients","year":2025,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"King Saud bin Abdulaziz University for Health Science; King Khalid University; King Salman Center for Disability Research; University of Jeddah; Umm Al-Qura University; Imam Abdulrahman Bin Faisal University; Ministry of National Guard Health Affairs; Memorial University of Newfoundland; King Khaled Eye Specialist Hospital; Faculty of Medicine, Memorial University of Newfoundland; King Abdulaziz University; King Saud University; King Faisal Specialist Hospital and Research Centre","keywords":"Human genetics; Genomics; Precision medicine; Genomic medicine; Genome Biology; Systems biology; MEDLINE; Personalized medicine","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":[0.002859947,0.0003793216,0.0005562924,0.001153803,0.0007517331,0.001320446,0.0009526036,0.0007771386,0.002902937],"category_scores_gemma":[0.009380313,0.0003516809,0.0003157561,0.00257511,0.0004547503,0.0009652002,0.001591807,0.0008600283,0.0009493568],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008021627,"about_ca_system_score_gemma":0.0008118145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01324551,"about_ca_topic_score_gemma":0.01546167,"domain_scores_codex":[0.9980212,0.0006575887,0.0002760148,0.0006182736,0.0002723017,0.0001545205],"domain_scores_gemma":[0.9932789,0.001873031,0.0009865698,0.001201771,0.001381812,0.001277848],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002311566,0.0001113377,0.9690148,0.00005929176,0.0001334075,0.003122968,0.002444481,0.00009614498,0.0006252844,0.0004103354,0.005020927,0.01872999],"study_design_scores_gemma":[0.00008052633,0.0003013234,0.9706905,0.0001952205,0.0001525103,0.008999071,0.004283669,0.0005482358,0.0002687733,0.001187788,0.01324544,0.00004694363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846001,0.001442792,0.002540281,0.002196753,0.00006794158,0.00009320457,0.004683141,0.00004875913,0.004327013],"genre_scores_gemma":[0.9885383,0.001510209,0.003726197,0.001444832,0.0001097471,0.00009253181,0.003916448,0.00007689746,0.0005848597],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01324551,"threshold_uncertainty_score":0.02633679,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007405557295848124,"score_gpt":0.2741184832435521,"score_spread":0.266712925947704,"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."}}