{"id":"W7143403379","doi":"10.71465/ajb.2719","title":"Applications of Bioinformatics in Clinical Genomics","year":2025,"lang":"","type":"article","venue":"American Journal of Bioinformatics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Genomics; Personalized medicine; Translational bioinformatics; Precision medicine; Personal genomics; Genome; Disease; Relation (database)","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":[0.03002134,0.00122277,0.001408527,0.005520239,0.001399421,0.008706613,0.002168751,0.003619298,0.005549269],"category_scores_gemma":[0.07664391,0.0009090842,0.001346443,0.006326934,0.00364533,0.005776573,0.005509778,0.005902087,0.003401702],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002477991,"about_ca_system_score_gemma":0.005810981,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001661618,"about_ca_topic_score_gemma":0.001317917,"domain_scores_codex":[0.9675076,0.02407315,0.001654888,0.001755275,0.004502203,0.0005069352],"domain_scores_gemma":[0.8980492,0.08391327,0.002303406,0.005620595,0.007594139,0.00251932],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003305541,0.0002358746,0.01531912,0.002489497,0.0003940512,0.001301829,0.001398327,0.0152787,0.003871817,0.278696,0.05364225,0.6270419],"study_design_scores_gemma":[0.0001012472,0.0001678563,0.004393444,0.002050753,0.0001464722,0.001855385,0.0009694828,0.03464649,0.002242761,0.7021666,0.2511098,0.0001498231],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"review","genre_scores_codex":[0.01083358,0.1014933,0.617897,0.1971786,0.004512769,0.0006210264,0.00140446,0.00372013,0.06233911],"genre_scores_gemma":[0.222818,0.09781948,0.6327239,0.02871491,0.01069176,0.0007789077,0.001465561,0.0006769588,0.004310493],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.03002134,"threshold_uncertainty_score":0.1587699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005890149701619688,"score_gpt":0.2883416960959302,"score_spread":0.2824515463943106,"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."}}