{"id":"W2266573952","doi":"10.1038/ng.3383","title":"Genetic association analyses highlight biological pathways underlying mitral valve prolapse","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cardiac Valve Diseases and Treatments","field":"Medicine","cited_by":135,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Genome Canada; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"National Center for Research Resources; National Heart, Lung, and Blood Institute; Fonds de Recherche du Québec - Santé; American Heart Association; Canadian Institutes of Health Research; Agence Nationale de la Recherche; Fondation Leducq; European Commission; National Institutes of Health; Sociedad Española de Cardiología; Massachusetts General Hospital; National Institute of General Medical Sciences","keywords":"Biology; Mitral valve prolapse; Zebrafish; Tensin; Genome-wide association study; Candidate gene; Genetics; Genetic association; Phenotype; Internal medicine; Mitral valve; Gene; Bioinformatics; Single-nucleotide polymorphism; Medicine; PTEN; Signal transduction; Genotype; PI3K/AKT/mTOR pathway","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001128249,0.00020069,0.0003195814,0.00008046912,0.00005903667,0.00003587271,0.00007508205,0.0004925215,0.00002170105],"category_scores_gemma":[0.0002261509,0.0001496976,0.001256049,0.0002312354,0.00002288773,0.00002324208,0.00004293911,0.0003183552,0.00005822527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003391867,"about_ca_system_score_gemma":0.0001820186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000675651,"about_ca_topic_score_gemma":0.000001917657,"domain_scores_codex":[0.9985662,0.00007084572,0.0002159928,0.0003282526,0.0004935491,0.0003251289],"domain_scores_gemma":[0.9989245,0.00004657029,0.0001119577,0.0002782727,0.0003014691,0.0003372404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009560675,0.0002525946,0.9923052,0.00001624654,0.001646931,0.00004373143,0.00009170441,0.00004702728,0.0008887118,0.00002296411,0.002752392,0.001836908],"study_design_scores_gemma":[0.001821754,0.0003766131,0.992244,0.00001861233,0.001742862,0.00001374121,0.00008208494,0.00009292707,0.0007775625,0.0005193528,0.0021412,0.000169311],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9748693,0.02259026,0.00005022817,0.0002122708,0.0005038182,0.0003655839,0.00005285221,0.00008256644,0.001273127],"genre_scores_gemma":[0.9961356,0.0003901705,0.002158105,0.0005602494,0.0004049946,0.00002031929,0.0001466731,0.00002348261,0.0001604258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02220009,"threshold_uncertainty_score":0.6104491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09273949089582924,"score_gpt":0.3972723467989947,"score_spread":0.3045328559031655,"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."}}