{"id":"W4386851519","doi":"10.3389/fcvm.2023.1254272","title":"Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients","year":2023,"lang":"en","type":"article","venue":"Frontiers in Cardiovascular Medicine","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Sydäntutkimussäätiö; Suomen Lääketieteen Säätiö; Aarne Koskelon Säätiö; Foundation for Cardiovascular Research","keywords":"MYH7; Medicine; Genetic testing; LMNA; Dilated cardiomyopathy; Genetics; Genetic heterogeneity; Implantable cardioverter-defibrillator; Internal medicine; Cardiology; Bioinformatics; Gene; Heart failure; Phenotype; Biology","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":[0.001134492,0.0002971451,0.0002704247,0.001122159,0.0005063188,0.000698256,0.000517937,0.0005165558,0.001360994],"category_scores_gemma":[0.005908945,0.0002482057,0.0002897012,0.0008624594,0.0004083607,0.000331471,0.0007790539,0.000384913,0.0002881553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004225014,"about_ca_system_score_gemma":0.0003065548,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004722451,"about_ca_topic_score_gemma":0.004216481,"domain_scores_codex":[0.9988173,0.0003538862,0.0001219097,0.0003514503,0.000194506,0.0001608409],"domain_scores_gemma":[0.9973875,0.0008977778,0.0009244448,0.0002531651,0.0002574294,0.0002797202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003625955,0.000009026946,0.9989182,0.000002040579,0.000009782579,0.0002010492,0.000037223,0.00002173417,0.0001005841,0.000006403365,0.00006669591,0.0005910387],"study_design_scores_gemma":[0.000009285296,0.00004765722,0.9977307,0.000006993326,0.00002316884,0.001390039,0.0001880647,0.0003394534,0.00007304955,0.00002344837,0.0001641743,0.000004071801],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993406,0.00009001542,0.00003308187,0.00004522277,0.000003292492,0.00000512156,0.0002246996,0.000002614061,0.0002552998],"genre_scores_gemma":[0.9994214,0.00006132326,0.00006801098,0.00003988855,0.000007507377,0.00001050813,0.0003412807,0.000002147958,0.00004800953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004722451,"threshold_uncertainty_score":0.009389937,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01806662099790557,"score_gpt":0.2409022650115992,"score_spread":0.2228356440136936,"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."}}