{"id":"W2952984935","doi":"10.1111/chd.12578","title":"Analysis of <i>DICER1</i> in familial and sporadic cases of transposition of the great arteries","year":2018,"lang":"en","type":"article","venue":"Congenital Heart Disease","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University and Génome Québec Innovation Centre; Jewish General Hospital","funders":"Alex's Lemonade Stand Foundation for Childhood Cancer","keywords":"Great arteries; Missense mutation; Germline; Medicine; Genetics; Transposition (logic); Germline mutation; Exon; Intron; Mutation; Gene; Biology; Heart disease; Internal medicine","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":[0.0002999696,0.0002930444,0.0001925301,0.00118594,0.0003914206,0.0002307988,0.0002745588,0.0004496222,0.00131809],"category_scores_gemma":[0.001518455,0.0001997085,0.0001728135,0.0004827584,0.000501159,0.0001149226,0.0002833847,0.0001996054,0.0002130179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001607695,"about_ca_system_score_gemma":0.0001442387,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001070156,"about_ca_topic_score_gemma":0.000879527,"domain_scores_codex":[0.9996821,0.0000571191,0.00004064769,0.0001111973,0.00006392108,0.00004509951],"domain_scores_gemma":[0.9994717,0.0001994176,0.0001633524,0.00003311323,0.00004963878,0.00008277949],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003779019,0.00006512113,0.8669361,0.00009420108,0.00007278358,0.04378782,0.0008578214,0.0002251869,0.08026686,0.0001533383,0.0002088842,0.006954151],"study_design_scores_gemma":[0.00003415652,0.0003716146,0.8385874,0.0000195026,0.00008575401,0.1464252,0.0003314892,0.0008159316,0.01219268,0.0001171818,0.001006172,0.00001288982],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994585,0.00008539555,0.0001536063,0.00001089534,0.00000156286,0.000005338194,0.00004122616,0.000006182111,0.0002373884],"genre_scores_gemma":[0.999511,0.00005014107,0.0002656944,0.00001127038,0.000003679283,0.000003306141,0.00007921166,0.000003046242,0.00007254203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00131809,"threshold_uncertainty_score":0.004409492,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01181279741199351,"score_gpt":0.2722608653833136,"score_spread":0.2604480679713201,"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."}}