{"id":"W2057384061","doi":"10.1007/s10545-012-9463-4","title":"The clinical implementation of whole genome sequencing: a conversation with seven scientific experts","year":2012,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Timeline; Conversation; Human genetics; Medical genetics; Precision medicine; Medical education; Medicine; Data science; Psychology; Genetics; Computer science; Biology; Pathology; History","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":[0.0006610641,0.00009123408,0.0001470922,0.0000514489,0.0001017053,0.00004504391,0.0001564174,0.00003360965,0.00001543298],"category_scores_gemma":[0.00007814301,0.00005698179,0.0001568711,0.0001066755,0.0001524333,0.00001994671,0.0000373227,0.00004897513,0.000001354729],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001253757,"about_ca_system_score_gemma":0.0005157092,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004463755,"about_ca_topic_score_gemma":0.000005987144,"domain_scores_codex":[0.9989389,0.0001193938,0.0004427628,0.000105547,0.0002145437,0.0001789089],"domain_scores_gemma":[0.9986873,0.00001458115,0.0004627491,0.0002146694,0.0003367012,0.0002840454],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001640797,0.0005472724,0.1249218,0.00004382636,0.0007214309,0.00002175086,0.001846634,0.0001291793,0.8509401,0.0002183186,0.002993806,0.01597511],"study_design_scores_gemma":[0.002693141,0.0003816797,0.655656,0.00003161468,0.0005028965,0.00005182911,0.009777237,0.00001520274,0.0119544,0.00006559407,0.3186047,0.0002656653],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898479,0.009303315,0.0001518989,0.0001734176,0.0003194482,0.0001313428,0.00005630656,0.000001653352,0.00001471571],"genre_scores_gemma":[0.9986312,0.0004404905,0.0002555018,0.0001295427,0.0004087827,0.000005216777,0.00006417532,0.00001233716,0.00005272172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8389857,"threshold_uncertainty_score":0.232365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0270754700991029,"score_gpt":0.3221154082330815,"score_spread":0.2950399381339786,"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."}}