{"id":"W1986410290","doi":"10.1002/humu.22018","title":"Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; Radboud Universiteit; University of Vermont; Philadelphia Foundation","keywords":"Biology; Exome; Genome; Identification (biology); Human genome; Computational biology; Variation (astronomy); Exome sequencing; Disease; Genetics; Gene; Mutation; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000248148,0.0001090813,0.00008673572,0.00006135848,0.0007580295,0.0001531628,0.00007007777,0.00004519047,0.00002286396],"category_scores_gemma":[0.00001360177,0.00008977542,0.0001190276,0.0000742893,0.0001024171,0.00001327208,0.0000319007,0.00001657357,0.000003062747],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002134211,"about_ca_system_score_gemma":0.00003014985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005947881,"about_ca_topic_score_gemma":0.00005252547,"domain_scores_codex":[0.9992065,0.00003668351,0.0001866604,0.0003740081,0.00007187764,0.0001242897],"domain_scores_gemma":[0.9994569,0.000007869872,0.0001414449,0.0002317087,0.0001004361,0.00006160231],"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":[0.00005405707,0.0001228353,0.003165245,0.00003688774,0.0004992798,0.000001464179,0.004107015,0.00008697324,0.9899153,0.001362135,0.0000166565,0.0006321648],"study_design_scores_gemma":[0.0005168251,0.0001487178,0.990796,0.000002393482,0.0009956496,0.000002181005,0.0003350437,0.0005740438,0.002104713,0.003875902,0.000459721,0.0001888202],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965775,0.0006869078,0.002114465,0.00003009594,0.00002847047,0.0004229365,0.00008716069,0.000009069799,0.0000434137],"genre_scores_gemma":[0.996955,0.00005124545,0.0001981219,0.00003365288,0.0000814162,0.0001153032,0.001948579,0.00001284929,0.0006037884],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9878106,"threshold_uncertainty_score":0.5830227,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02292157959953623,"score_gpt":0.2614819498394576,"score_spread":0.2385603702399214,"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."}}