{"id":"W2611355347","doi":"10.1161/circgenetics.116.001581","title":"Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease","year":2017,"lang":"en","type":"article","venue":"Circulation Cardiovascular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Exome sequencing; Heart disease; Exome; Medicine; Computational biology; DNA sequencing; Disease; Biology; Genetics; Internal medicine; Mutation; Gene","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":[0.001700796,0.0006047596,0.000466814,0.001775551,0.0003362271,0.0008706988,0.0003647223,0.000785246,0.001685451],"category_scores_gemma":[0.004122519,0.0001801518,0.0003410584,0.0007764961,0.0002518026,0.0003182901,0.0007498068,0.0003607432,0.0003621626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001989208,"about_ca_system_score_gemma":0.0003576279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001090403,"about_ca_topic_score_gemma":0.002384673,"domain_scores_codex":[0.9987757,0.0005580644,0.0001109105,0.0002802118,0.0002066468,0.00006839508],"domain_scores_gemma":[0.9977704,0.001419137,0.0001605948,0.0001962923,0.0003088598,0.0001447439],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001685111,0.0002695871,0.5554027,0.0004714812,0.0008255185,0.007355083,0.0006063338,0.003876919,0.20794,0.00205498,0.0039207,0.2155915],"study_design_scores_gemma":[0.0001890861,0.001118712,0.8310279,0.000509445,0.0009731059,0.02397946,0.0007637989,0.02173299,0.07863246,0.005571313,0.03540069,0.0001008693],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9574021,0.00734603,0.01882641,0.001273265,0.0002321169,0.0001264899,0.003261876,0.0001650577,0.01136668],"genre_scores_gemma":[0.9838594,0.002271849,0.01052376,0.0007489987,0.0001001432,0.00006254499,0.001318541,0.00004135738,0.001073392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001775551,"threshold_uncertainty_score":0.008994758,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.115203190668198,"score_gpt":0.3620185505848256,"score_spread":0.2468153599166276,"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."}}