{"id":"W4409574103","doi":"10.1038/s41746-025-01603-4","title":"Genomic language models could transform medicine but not yet","year":2025,"lang":"en","type":"article","venue":"npj Digital Medicine","topic":"Genetics, Bioinformatics, and Biomedical Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vector Institute; University of Toronto; University Health Network","funders":"Natural Sciences and Engineering Research Council of Canada; University of Toronto","keywords":"Genomic medicine; Computational biology; Computer science; Natural language processing; Biology; Genetics; Linguistics; Philosophy","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":[0.008681068,0.001374871,0.0009202579,0.001364384,0.0009720553,0.005883213,0.001573346,0.003053894,0.01236119],"category_scores_gemma":[0.03275068,0.0005190958,0.001173088,0.001116618,0.004890622,0.01080395,0.003741158,0.007043674,0.005523476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002350189,"about_ca_system_score_gemma":0.002536964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004497981,"about_ca_topic_score_gemma":0.003743592,"domain_scores_codex":[0.9972275,0.001673745,0.00009167301,0.000459224,0.0004002784,0.000147652],"domain_scores_gemma":[0.9820962,0.01466711,0.0003464457,0.001331737,0.001062609,0.0004960175],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0002996597,0.00009145513,0.002730774,0.000437076,0.0001736247,0.0001776069,0.0006885311,0.02153789,0.0008279743,0.7098015,0.07393741,0.1892965],"study_design_scores_gemma":[0.00002687936,0.00004655978,0.000284632,0.0002648314,0.00003321089,0.00008336646,0.0002017362,0.0274681,0.0005213245,0.8686974,0.1023291,0.00004279131],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"methods","genre_gemma":"commentary","genre_scores_codex":[0.01002753,0.02664329,0.4885874,0.4214932,0.005565993,0.0001350794,0.004187145,0.004328126,0.03903216],"genre_scores_gemma":[0.4401251,0.03358364,0.3985581,0.08259537,0.007885318,0.0005780131,0.007091586,0.002031887,0.02755107],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.01236119,"threshold_uncertainty_score":0.04591048,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01782239376352582,"score_gpt":0.2972402323870185,"score_spread":0.2794178386234927,"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."}}