{"id":"W4402301867","doi":"10.1371/journal.pone.0304514","title":"Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve","year":2024,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"Department of Mechanical Engineering, University of Texas at Austin; National Heart, Lung, and Blood Institute; University of Texas at Austin","keywords":"Bicuspid aortic valve; Copy-number variation; Candidate gene; Proband; Genetics; Aortic valve; SNP array; Thoracic aortic aneurysm; Genome-wide association study; Biology; Medicine; Genotype; Aortic aneurysm; Single-nucleotide polymorphism; Gene; Internal medicine; Genome; Mutation; Aorta","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":[0.0004688134,0.0004033633,0.0005273834,0.001941117,0.0004059161,0.0006835144,0.0004427337,0.000597887,0.002295199],"category_scores_gemma":[0.002787362,0.0002118902,0.0004526587,0.001215934,0.000449698,0.0002484036,0.00048451,0.0003217575,0.0002034173],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002838198,"about_ca_system_score_gemma":0.0002327481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001827473,"about_ca_topic_score_gemma":0.003805734,"domain_scores_codex":[0.9990652,0.000105253,0.00007996811,0.0004527743,0.0002062738,0.00009058949],"domain_scores_gemma":[0.9988194,0.0006793162,0.0002709105,0.00007404947,0.00005686657,0.000099419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001571696,0.0001212582,0.7207463,0.0003621388,0.0009610014,0.01133333,0.0006727695,0.001624139,0.1838178,0.001457114,0.001182228,0.07615027],"study_design_scores_gemma":[0.00008205147,0.0002060017,0.9632531,0.00005365335,0.0003465427,0.01724368,0.0001659214,0.003805978,0.01115817,0.001269409,0.002379056,0.0000364645],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942164,0.00164152,0.002475547,0.00008310522,0.00001767301,0.00001752835,0.0009606233,0.00009169506,0.000495834],"genre_scores_gemma":[0.9964186,0.0003519643,0.002083421,0.0000460775,0.0000199319,0.00001363427,0.0008006298,0.00001796303,0.0002477224],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002295199,"threshold_uncertainty_score":0.007678211,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0371842763709168,"score_gpt":0.3032730506043325,"score_spread":0.2660887742334157,"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."}}