{"id":"W2246559112","doi":"10.1038/nprot.2015.124","title":"Next-generation diagnostics and disease-gene discovery with the Exomiser","year":2015,"lang":"en","type":"article","venue":"Nature Protocols","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":466,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health","keywords":"Exome; Sanger sequencing; Computational biology; Exome sequencing; Computer science; Suite; DNA sequencing; Genetics; Biology; Gene; Bioinformatics; Mutation","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009252883,0.0001248448,0.00007346074,0.00001216273,0.00008504673,0.0001498816,0.000126058,0.0001173128,0.000001418872],"category_scores_gemma":[0.0001621107,0.00007194922,0.0000309414,0.00004236803,0.0000663812,0.000009700381,0.00007842723,0.0001130474,0.000001746777],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007192554,"about_ca_system_score_gemma":0.000200792,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002321974,"about_ca_topic_score_gemma":0.00001695107,"domain_scores_codex":[0.9993766,0.00003827722,0.00007576845,0.000244176,0.0001321577,0.0001330352],"domain_scores_gemma":[0.9993697,0.00001005523,0.0000466558,0.0002820509,0.0001025304,0.0001889986],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004235006,0.0007886608,0.04742483,0.0002178871,0.0003643976,0.0001922552,0.0002999205,0.001007808,0.6073498,0.003241835,0.3275354,0.007342178],"study_design_scores_gemma":[0.004040677,0.001189624,0.01986666,0.00008170625,0.00015797,0.00006983246,0.0001761248,0.0003134058,0.1313711,0.001009773,0.84081,0.0009131156],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9541719,0.006848396,0.0007630067,0.002524687,0.0001133016,0.03508819,0.0001509691,0.00001877135,0.0003208032],"genre_scores_gemma":[0.9780949,0.00007412521,0.0003125699,0.001401598,0.000626786,0.01879681,0.0002221692,0.00002250779,0.0004484704],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5132747,"threshold_uncertainty_score":0.2934004,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02664112301437988,"score_gpt":0.2800315199897486,"score_spread":0.2533903969753687,"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."}}