{"id":"W3170317933","doi":"10.1016/j.xhgg.2021.100037","title":"Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Biomedical Imaging and Bioengineering; National Institutes of Health; Heart and Stroke Foundation of Canada; National Heart, Lung, and Blood Institute; Chinese University of Hong Kong","keywords":"Bicuspid aortic valve; Internal medicine; Ventricular outflow tract obstruction; Odds ratio; Compound heterozygosity; Hypoplastic left heart syndrome; Heart disease; Cardiology; Genetics; Medicine; Aorta; Biology; Mitral valve; Phenotype; Gene","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":[0.0002908114,0.0008372435,0.0005079996,0.001476614,0.0003039829,0.0003895726,0.0003711063,0.0005624346,0.001969653],"category_scores_gemma":[0.001290808,0.0002439163,0.0003716217,0.0007332339,0.0005489785,0.0001584936,0.000572569,0.0004458695,0.0001595691],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001538054,"about_ca_system_score_gemma":0.0001341625,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001415895,"about_ca_topic_score_gemma":0.001349323,"domain_scores_codex":[0.999271,0.0001649229,0.00006967351,0.000254112,0.0001848454,0.00005538627],"domain_scores_gemma":[0.9990442,0.0004228224,0.0003134796,0.00005907252,0.00004550063,0.000114843],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001903111,0.0001642042,0.8038044,0.0001337405,0.0008220953,0.02249221,0.0005169619,0.0006669999,0.1436236,0.001346751,0.000411131,0.02411477],"study_design_scores_gemma":[0.00009910249,0.0003538999,0.9368067,0.00003905034,0.000337247,0.05123893,0.0002107029,0.001472488,0.007612207,0.0006206912,0.001182385,0.00002651421],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997186,0.0008076747,0.001392982,0.00003969929,0.0000102884,0.00001199939,0.0001574896,0.00002544809,0.0003684212],"genre_scores_gemma":[0.9984744,0.0002574417,0.0008545046,0.00001995751,0.00001822398,0.000005402536,0.0001351903,0.00001086387,0.0002240279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001969653,"threshold_uncertainty_score":0.006589174,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0244200118762945,"score_gpt":0.3142032344717675,"score_spread":0.289783222595473,"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."}}