{"id":"W2966423463","doi":"10.1016/j.hrthm.2019.07.030","title":"Gene discovery: From biological plausibility to genetic evidence supporting disease causation","year":2019,"lang":"en","type":"letter","venue":"Heart Rhythm","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Toronto General Hospital","funders":"Canadian Institutes of Health Research; National Institutes of Health","keywords":"Medicine; Causation; Disease; MEDLINE; Computational biology; Data science; Bioinformatics; Epistemology; Internal medicine; Biology; Computer science","routes":{"ca_aff":true,"ca_fund":true,"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":[0.009035637,0.0007042063,0.001956292,0.001253738,0.002854533,0.004291901,0.002178326,0.04463019,0.003853632],"category_scores_gemma":[0.05890443,0.0006851142,0.0009294075,0.0008561764,0.00783639,0.005278702,0.001849472,0.03796131,0.002889861],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003337854,"about_ca_system_score_gemma":0.002457254,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001687827,"about_ca_topic_score_gemma":0.002733272,"domain_scores_codex":[0.9939495,0.002900765,0.000723087,0.0007953274,0.001140156,0.0004910576],"domain_scores_gemma":[0.9356316,0.05394312,0.001750164,0.001592913,0.003773323,0.003308861],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0004865583,0.00007955886,0.004286585,0.0002491943,0.0001330006,0.01309473,0.0002932709,0.0001980619,0.0007230558,0.02015529,0.919003,0.04129765],"study_design_scores_gemma":[0.00110558,0.0002364484,0.005997041,0.001228374,0.0002723046,0.02720229,0.00115921,0.003560626,0.00123547,0.3687471,0.5890142,0.0002413187],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0005205401,0.002398747,0.0002464951,0.9881847,0.007552675,0.000004508777,0.00002958619,0.0000120308,0.001050689],"genre_scores_gemma":[0.01819997,0.003575326,0.0008593119,0.8260792,0.1491277,0.00003891322,0.00003587713,0.00002645429,0.00205714],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.04463019,"threshold_uncertainty_score":0.04778558,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03062867787483439,"score_gpt":0.2846560897955779,"score_spread":0.2540274119207435,"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."}}