{"id":"W3082735129","doi":"10.1186/s13073-020-00772-z","title":"Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease","year":2020,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"H. Lundbeck A/S; Novo Nordisk Fonden; Eva og Henry Frænkels Mindefond; A.P. Møller og Hustru Chastine Mc-Kinney Møllers Fond til almene Formaal; Novo Nordisk; Lundbeckfonden; Højteknologifonden; Fonds Wetenschappelijk Onderzoek; Kong Christian den Tiendes Fond; Aase og Ejnar Danielsens Fond; Fonden til Lægevidenskabens Fremme; Oda og Hans Svenningsens Fond; King's College London; Wellcome Trust; Børnehjertefonden; Villum Fonden; Universitaire Ziekenhuizen Leuven, KU Leuven; Hjerteforeningen; Arvid Nilssons Fond; British Heart Foundation; Dagmar Marshalls Fond","keywords":"Zebrafish; Human genetics; Genetics; Biology; Gene; Exome sequencing; Disease; Heart disease; Genetic architecture; Mutation; Allele; Bioinformatics; Phenotype; Medicine; 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":[0.0003080046,0.0004332933,0.0002776135,0.002139488,0.0002718393,0.0003195136,0.0002672937,0.0003886774,0.00150093],"category_scores_gemma":[0.00061308,0.0001205767,0.0002651603,0.00117867,0.0004858256,0.0001307475,0.0005330698,0.0002294017,0.0001223359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003875474,"about_ca_system_score_gemma":0.0004216012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00120782,"about_ca_topic_score_gemma":0.002017724,"domain_scores_codex":[0.9996456,0.00006477362,0.00003169562,0.0001553951,0.0000758086,0.00002679355],"domain_scores_gemma":[0.9997581,0.00009986354,0.00008165632,0.00002091246,0.00001698735,0.00002242814],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007027527,0.00008227087,0.4348951,0.0005650187,0.0004486355,0.0109362,0.0005470967,0.001703329,0.5166254,0.002701403,0.001096013,0.02969669],"study_design_scores_gemma":[0.00007721035,0.0003365114,0.8986145,0.00008112948,0.0005136909,0.02779119,0.0002894711,0.005678889,0.05752533,0.002864662,0.00618943,0.00003794521],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927319,0.001067037,0.003808539,0.0001157302,0.00001021094,0.00001926992,0.001049825,0.00006071018,0.001136973],"genre_scores_gemma":[0.99502,0.0004918238,0.003550376,0.00003942756,0.000006657761,0.00001337438,0.000672821,0.0000110234,0.0001945054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002139488,"threshold_uncertainty_score":0.005021155,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04378997172120726,"score_gpt":0.3188723643406779,"score_spread":0.2750823926194707,"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."}}