{"id":"W2894573137","doi":"10.1101/433268","title":"GWAS-driven Pathway Analyses and Functional Validation Suggest <i>GLIS1</i> as a Susceptibility Gene for Mitral Valve Prolapse","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Cardiac Valve Diseases and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Centro Nacional de Investigaciones Cardiovasculares; Hebrew University of Jerusalem; Institut universitaire de cardiologie et de pneumologie de Québec, Université Laval; Medical University of South Carolina; Agence Nationale de la Recherche; Université Laval; Société Française de Cardiologie; Fondation Leducq; National Center for Research Resources; American Heart Association","keywords":"Mitral valve prolapse; Genome-wide association study; Biology; Extracellular matrix; Sudden death; Disease; In silico; valvular heart disease; Cell biology; Gene; Bioinformatics; Genetics; Cardiology; Mitral valve; Internal medicine; Medicine; Single-nucleotide polymorphism; Genotype","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":[0.000911319,0.00074002,0.0006167082,0.0008299435,0.000450401,0.0009582571,0.0003695638,0.0004396849,0.005362144],"category_scores_gemma":[0.001684207,0.0001759116,0.001952315,0.0009477811,0.0003271539,0.0001976575,0.0006259492,0.0008036983,0.0006735463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002139279,"about_ca_system_score_gemma":0.0008637675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00219209,"about_ca_topic_score_gemma":0.002470004,"domain_scores_codex":[0.9994346,0.0001275772,0.0000373451,0.000211729,0.00009237353,0.00009644144],"domain_scores_gemma":[0.9990438,0.0004558335,0.0001746041,0.00009613996,0.00008198753,0.0001476799],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.003912934,0.0003768562,0.6920678,0.00112108,0.004570503,0.005677426,0.0002403585,0.005725245,0.2322002,0.001926534,0.006483156,0.04569792],"study_design_scores_gemma":[0.0003531954,0.0007101517,0.9244948,0.000125808,0.003620164,0.007544591,0.0003411504,0.01942285,0.02838123,0.004954956,0.009974202,0.00007679995],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9622107,0.001540945,0.01297091,0.001046255,0.0001282773,0.00006241537,0.02002201,0.0006084931,0.001410045],"genre_scores_gemma":[0.9797087,0.0004932094,0.008220138,0.0003255064,0.00003121265,0.0000606828,0.00997184,0.00009120364,0.001097533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005362144,"threshold_uncertainty_score":0.0179382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03241181945126721,"score_gpt":0.3110209572928904,"score_spread":0.2786091378416232,"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."}}