{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01003972,0.001197674,0.0009437366,0.001654453,0.00124921,0.005220096,0.000901683,0.004338366,0.006044046],"category_scores_gemma":[0.005588001,0.0004200848,0.0005701084,0.001233924,0.001418057,0.002421023,0.002517307,0.006171787,0.002201288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002718942,"about_ca_system_score_gemma":0.004454049,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003903702,"about_ca_topic_score_gemma":0.01597422,"domain_scores_codex":[0.9980222,0.0006113987,0.0001174556,0.0002514637,0.0006861258,0.0003114608],"domain_scores_gemma":[0.9942068,0.0008831545,0.0002145065,0.0001140627,0.002463551,0.002117875],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001026961,0.00003404535,0.0007751272,0.000233848,0.00003387154,0.0001571856,0.0001401782,0.0001233374,0.001374076,0.001769318,0.8845873,0.110669],"study_design_scores_gemma":[0.00003403678,0.00008623965,0.004097004,0.0004696394,0.00004677862,0.0004488379,0.0003559785,0.0005937938,0.0008625911,0.003820019,0.989118,0.00006711375],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.00403533,0.1699056,0.01081994,0.6097775,0.189509,0.0001775228,0.0005850924,0.0003068391,0.01488316],"genre_scores_gemma":[0.05007218,0.2838171,0.01960766,0.1363329,0.3027903,0.0004226431,0.001729352,0.0004071153,0.2048208],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01003972,"threshold_uncertainty_score":0.05309576,"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."}}