{"id":"W1989301770","doi":"10.1111/j.1399-0004.2012.01868.x","title":"Whole‐genome sequencing and the physician","year":2012,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; McGill University; McGill University Health Centre","funders":"","keywords":"Library science; Genomics; Precision medicine; Genetics; Computer science; Biology; Genome; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004003324,0.0000995837,0.0001332942,0.000007424472,0.00008788511,0.00002185065,0.0001446553,0.00009563884,0.000003983746],"category_scores_gemma":[0.00009788468,0.00006728154,0.0001154695,0.00003031655,0.0003215003,0.000001375016,0.0001701913,0.00008234178,0.00002453878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000407504,"about_ca_system_score_gemma":0.00004229189,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001587917,"about_ca_topic_score_gemma":0.000001785381,"domain_scores_codex":[0.9992071,0.00009603561,0.0002300601,0.0001801735,0.00006125533,0.0002253139],"domain_scores_gemma":[0.9993911,0.00004454791,0.00006633118,0.0003134787,0.00003491594,0.0001496552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00109379,0.001000781,0.1719417,0.0001321373,0.001126415,0.00001758805,0.001309872,0.000501136,0.6966805,0.00582765,0.01095026,0.1094181],"study_design_scores_gemma":[0.003434517,0.000359626,0.1906241,0.00001262247,0.0002335785,0.00003232718,0.000569326,0.0002867225,0.004753632,0.001187543,0.7979063,0.0005996477],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9867202,0.01103173,0.0002206246,0.0002401478,0.0002708794,0.0001306284,0.00002092937,0.000005433516,0.00135943],"genre_scores_gemma":[0.9938578,0.001536637,0.0004009764,0.002509514,0.001318897,0.000007026147,0.00004074338,0.00001679557,0.0003116237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7869561,"threshold_uncertainty_score":0.2743662,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03384488496767487,"score_gpt":0.3176150832159452,"score_spread":0.2837701982482703,"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."}}