{"id":"W2091883601","doi":"10.1002/humu.22055","title":"Exome and whole-genome sequencing for gene discovery: The future is now!","year":2012,"lang":"en","type":"letter","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Exome sequencing; Biology; Genomics; Exome; Mendelian inheritance; Disease; Personalized medicine; Medical genetics; Genetics; Genome; Data science; Gene; Mutation; Medicine; Computer science","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.03348481,0.002294555,0.00322609,0.004693569,0.001983386,0.007546755,0.003712859,0.008758369,0.03013604],"category_scores_gemma":[0.03610373,0.00122003,0.002653989,0.003920244,0.006429915,0.024177,0.007168956,0.01862099,0.01538721],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002831315,"about_ca_system_score_gemma":0.005341292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003935215,"about_ca_topic_score_gemma":0.00555629,"domain_scores_codex":[0.9924435,0.002843144,0.0004871216,0.001117992,0.002363013,0.0007453248],"domain_scores_gemma":[0.9418129,0.03205173,0.001802368,0.005525286,0.01073108,0.008076674],"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":[0.0006788299,0.000127183,0.004155396,0.003190915,0.0004609578,0.0004792705,0.0005635867,0.0007569818,0.008347577,0.04889587,0.5697032,0.3626402],"study_design_scores_gemma":[0.0001067175,0.0001755569,0.005070561,0.002658369,0.000175029,0.001186139,0.0007637499,0.001086348,0.001586248,0.1209204,0.8660648,0.000206093],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.004551928,0.284217,0.06911665,0.5783424,0.0330914,0.0002327855,0.007811082,0.003679742,0.01895691],"genre_scores_gemma":[0.03362545,0.4104351,0.2155065,0.2509244,0.04387221,0.0007900798,0.01390792,0.002221449,0.02871694],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.03348481,"threshold_uncertainty_score":0.1770867,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01535658097221132,"score_gpt":0.2476024017680988,"score_spread":0.2322458207958875,"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."}}