{"id":"W2763464096","doi":"10.1161/circgenetics.116.001690","title":"Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3","year":2017,"lang":"en","type":"article","venue":"Circulation Cardiovascular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Mental Health; National Heart, Lung, and Blood Institute; Institute of Genetics and Genomics of Geneva; School of Public Health, University of Texas Health Science Center at Houston; Perelman School of Medicine, University of Pennsylvania; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Tel Aviv University; University of Toronto; Institute of Genetics; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; University of Pennsylvania; Children's Hospital of Philadelphia; University of Michigan; College of Pharmacy, University of Michigan; University of Texas Health Science Center at Houston; Canadian Institutes of Health Research; American Heart Association; National Science Foundation","keywords":"Genome-wide association study; Biology; Genetics; Tetralogy of Fallot; Locus (genetics); Single-nucleotide polymorphism; DiGeorge syndrome; Chromatin; Gene; MEF2C; Genetic association; Heart disease; Genotype; Transcription factor; Medicine; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001043707,0.0005717577,0.0006175846,0.0008917833,0.0006638527,0.0005417885,0.0005199136,0.0008073858,0.0016111],"category_scores_gemma":[0.001607121,0.0002613273,0.0008422642,0.00129065,0.0003563261,0.0001652519,0.0004132417,0.0008630599,0.0001847826],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001868743,"about_ca_system_score_gemma":0.0003199415,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005430805,"about_ca_topic_score_gemma":0.007094481,"domain_scores_codex":[0.9992968,0.0002016703,0.00005108689,0.0002756014,0.00009889362,0.00007590858],"domain_scores_gemma":[0.9990897,0.0003149358,0.0002325169,0.00008864079,0.00006831872,0.0002059216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005589138,0.00007037481,0.991623,0.00001897519,0.0007657012,0.0004271248,0.00005511396,0.0001118439,0.004255136,0.00006330355,0.000346698,0.001703756],"study_design_scores_gemma":[0.00005404693,0.00009943255,0.998006,0.000004174637,0.0003001395,0.0004881534,0.00002736067,0.0004040028,0.0002847341,0.00004561423,0.0002816668,0.000004603396],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978137,0.0004019279,0.0005040216,0.0001231402,0.00002896156,0.00001465681,0.0007386412,0.00001695627,0.0003580228],"genre_scores_gemma":[0.9982589,0.0001380118,0.0005219355,0.000076875,0.00002963753,0.00001875229,0.0007524348,0.000006263129,0.0001971278],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005430805,"threshold_uncertainty_score":0.01079839,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02940100285065012,"score_gpt":0.2938844256620808,"score_spread":0.2644834228114307,"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."}}