{"id":"W3012445609","doi":"10.1016/j.yjmcc.2020.03.006","title":"A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy","year":2020,"lang":"en","type":"article","venue":"Journal of Molecular and Cellular Cardiology","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary; Libin Cardiovascular Institute of Alberta","funders":"Deutsche Herzstiftung; Universität Bielefeld; Deutsche Forschungsgemeinschaft","keywords":"Cardiomyopathy; Gene deletion; Genetics; Biology; Medicine; Cardiology; Gene; Heart failure","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004926892,0.0003045121,0.001384902,0.0001300482,0.00006544502,0.00002678295,0.000113615,0.000248238,0.00001403639],"category_scores_gemma":[0.0001847673,0.0002501468,0.000986986,0.0002742172,0.0001605134,0.00007411293,0.00006173984,0.0005294983,0.000006737247],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009952296,"about_ca_system_score_gemma":0.0001471749,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007816884,"about_ca_topic_score_gemma":5.185437e-7,"domain_scores_codex":[0.9978865,0.0003823919,0.0004626916,0.0003545974,0.0005547722,0.0003589903],"domain_scores_gemma":[0.9986104,0.00004871769,0.0002844018,0.0002835515,0.0003178585,0.0004550515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002609451,0.0001822171,0.01570695,0.0002642274,0.01320035,0.09497693,0.001005913,0.0008802285,0.8549103,0.00002313647,0.01133804,0.004902221],"study_design_scores_gemma":[0.08953428,0.03334081,0.02331187,0.001623816,0.04255473,0.1670474,0.002996848,0.002040307,0.561852,0.0002311003,0.07115436,0.004312558],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9562134,0.02077808,0.02110522,0.001008798,0.0001316472,0.0003709769,0.00002784408,0.00002831787,0.0003357256],"genre_scores_gemma":[0.9979626,0.0003852608,0.000132856,0.001073574,0.0002943571,0.000007399317,0.00006307956,0.00005830694,0.00002256932],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2930584,"threshold_uncertainty_score":0.9999951,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006626643614692525,"score_gpt":0.1997563404079815,"score_spread":0.193129696793289,"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."}}