{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008633052,0.0002015334,0.0001347063,0.00003516857,0.0002369857,0.0001147025,0.0001439376,0.0003386621,0.00001111474],"category_scores_gemma":[0.000005156975,0.0001520673,0.0001170262,0.00002243944,0.00005757636,0.000007177155,0.00005751697,0.0001648063,0.000006708724],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002841248,"about_ca_system_score_gemma":0.00005955396,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006286255,"about_ca_topic_score_gemma":0.00001301142,"domain_scores_codex":[0.9991658,0.00003145628,0.000155576,0.0003210012,0.00009308265,0.0002331265],"domain_scores_gemma":[0.9994735,0.000009215501,0.000136891,0.0002836243,0.00006324349,0.00003353625],"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":[0.00002715169,0.00001687534,0.00007597921,0.0003003372,0.0002230572,0.00002561415,0.0006212595,0.00001841413,0.472342,0.00005775459,0.5255677,0.0007239114],"study_design_scores_gemma":[0.0002617713,0.00008966113,0.001160573,0.000009897386,0.0001381216,0.00004174417,0.0001424325,0.000006299808,0.002824605,0.0004646167,0.994577,0.0002832751],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8459108,0.01876964,0.001644877,0.1274549,0.0009818844,0.001474687,0.003518411,0.00002340646,0.0002214382],"genre_scores_gemma":[0.5600833,0.0005368327,0.0004333452,0.3446797,0.03401269,0.0003050395,0.04912177,0.0001855608,0.0106418],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4695174,"threshold_uncertainty_score":0.6201125,"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."}}