{"id":"W2331648671","doi":"10.1371/journal.pgen.1005963","title":"De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects","year":2016,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":124,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Eye Institute; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute","keywords":"Biology; Genetics; Exome sequencing; Penetrance; Copy-number variation; Exome; Allele; Mutation; Gene; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.0001702856,0.0001591409,0.0001652466,0.00004015524,0.0001011175,0.00001784683,0.000202263,0.0001488355,0.00005842604],"category_scores_gemma":[0.0002046811,0.0001046175,0.0001600605,0.0001100393,0.0001726263,0.0000031261,0.0004010949,0.00007134493,0.00004873523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006919476,"about_ca_system_score_gemma":0.0001693993,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007844254,"about_ca_topic_score_gemma":0.000109617,"domain_scores_codex":[0.998693,0.0001066078,0.0001945283,0.0003245239,0.0002581023,0.0004231647],"domain_scores_gemma":[0.9990855,0.00009031422,0.00004742078,0.0004865472,0.0001258879,0.0001643233],"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":[0.0000704001,0.00006408589,0.09121589,0.00004313656,0.0001210004,0.0000253424,0.00003313443,0.000006141403,0.9070255,0.00001252983,0.0004433612,0.0009395343],"study_design_scores_gemma":[0.0009339291,0.0004315647,0.0132534,0.00001477097,0.00006847204,0.0002681531,0.00001374438,0.0001676294,0.9422873,0.000024314,0.04236089,0.00017581],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968771,0.002239474,0.0001100821,0.0001222232,0.00004018053,0.0003659664,0.0001015556,0.000009063571,0.0001343091],"genre_scores_gemma":[0.9984551,0.0004801119,0.0001874983,0.00009772118,0.0001295686,0.00002056904,0.00002239927,0.00003299486,0.0005740402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0779625,"threshold_uncertainty_score":0.4266177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01449926775136132,"score_gpt":0.2553338384146657,"score_spread":0.2408345706633044,"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."}}