{"id":"W2018584963","doi":"10.1002/ana.22647","title":"Exome sequencing: Dual role as a discovery and diagnostic tool","year":2011,"lang":"en","type":"review","venue":"Annals of Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":178,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Exome sequencing; Exome; Context (archaeology); Sanger sequencing; DNA sequencing; Computational biology; Genomics; Genetic testing; Biology; Genetics; Bioinformatics; Medicine; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003035103,0.001001304,0.001808704,0.002318717,0.000256182,0.001497691,0.001241653,0.002088377,0.001493445],"category_scores_gemma":[0.002404923,0.0003024493,0.0004172235,0.001553721,0.001616331,0.002825503,0.0008047263,0.002884058,0.001408954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000875521,"about_ca_system_score_gemma":0.0009679422,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006041377,"about_ca_topic_score_gemma":0.001011018,"domain_scores_codex":[0.999283,0.0002444817,0.00007868859,0.000118174,0.0002403493,0.00003522865],"domain_scores_gemma":[0.9975818,0.001728012,0.0001445811,0.00006158254,0.0003605472,0.0001233328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006917903,0.00003821894,0.0003831837,0.00413429,0.00008294773,0.0007714546,0.00005790519,0.0002988134,0.001586012,0.009510108,0.02234819,0.9607198],"study_design_scores_gemma":[0.00003091335,0.00009412879,0.001664195,0.003578875,0.0001010332,0.009913035,0.0001414842,0.0003083278,0.001532939,0.01063714,0.9719461,0.00005191236],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002093032,0.9940697,0.001218559,0.002533496,0.000468378,0.000005015702,0.00001230561,0.00001695018,0.00146642],"genre_scores_gemma":[0.00125875,0.9946582,0.001603501,0.0009072932,0.0005743076,0.000008352587,0.00001753706,0.000003286247,0.00096873],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003035103,"threshold_uncertainty_score":0.01605135,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06618032077854993,"score_gpt":0.3212019902420953,"score_spread":0.2550216694635454,"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."}}