{"id":"W2091324958","doi":"10.1111/j.1399-0004.2011.01645.x","title":"Exome sequencing expedites disease gene discovery","year":2011,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Exome sequencing; Genetics; Exome; Biology; Gene; DNA sequencing; Computational biology; Disease; Mutation; Human genetics; Medicine","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":[0.001409428,0.0005357711,0.0007527278,0.0007161156,0.0006033582,0.001144276,0.0005551322,0.004961631,0.004221726],"category_scores_gemma":[0.01027091,0.0002874556,0.0004431798,0.0003491902,0.0006895856,0.00108354,0.0006995965,0.005260019,0.004089285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005221801,"about_ca_system_score_gemma":0.0004521402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008643826,"about_ca_topic_score_gemma":0.001859215,"domain_scores_codex":[0.9990515,0.0003328393,0.0001417403,0.0001140437,0.0002473999,0.0001124548],"domain_scores_gemma":[0.9938173,0.004468858,0.0001554273,0.0003619694,0.0008051911,0.000391254],"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":[0.001037808,0.0001697007,0.01690078,0.000254974,0.0001034371,0.05613247,0.0001953892,0.0006736226,0.01032952,0.006264057,0.6810951,0.2268432],"study_design_scores_gemma":[0.0006217061,0.0005496676,0.02848553,0.0004030484,0.0001777137,0.1932475,0.0003148821,0.00995629,0.01199092,0.03140482,0.7226999,0.0001479636],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.04741784,0.01209204,0.01641307,0.847671,0.0288222,0.0001843904,0.0009058955,0.001267165,0.04522645],"genre_scores_gemma":[0.4007547,0.0248759,0.02925508,0.378173,0.1098338,0.0003521259,0.001200126,0.0003880636,0.05516721],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.004961631,"threshold_uncertainty_score":0.01412314,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.13013173176691,"score_gpt":0.3559695816672897,"score_spread":0.2258378499003797,"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."}}