{"id":"W4297894277","doi":"10.1101/2022.09.21.22280107","title":"Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; NHLBI Division of Intramural Research; National Institutes of Health","keywords":"Williams syndrome; Biology; Disease; Phenotype; Genetics; Allele; Genetic association; Gene; Evolutionary biology; Medicine; Internal medicine; Single-nucleotide polymorphism; Neuroscience","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":["metaepi_narrow","open_science","research_integrity","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.005324195,0.00102238,0.002549898,0.003371607,0.0006002708,0.0006272959,0.003892238,0.0004864942,0.001401712],"category_scores_gemma":[0.006421377,0.001029738,0.001215008,0.005441867,0.0002017014,0.0003240073,0.008859805,0.002678538,0.0004052249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000849677,"about_ca_system_score_gemma":0.000515171,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001301664,"about_ca_topic_score_gemma":0.0004434469,"domain_scores_codex":[0.9880201,0.001122692,0.001693096,0.003327639,0.003371415,0.002465026],"domain_scores_gemma":[0.9940727,0.001351783,0.0005784092,0.003208336,0.0001999087,0.0005888233],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004180053,0.0009571742,0.8544402,0.0003563073,0.001116479,0.005159498,0.0009910001,0.02049553,0.1160098,0.0001348147,0.00005341678,0.0002439966],"study_design_scores_gemma":[0.001116976,0.0001178381,0.9844143,0.0001923497,0.0003849615,0.0001000058,0.0001297717,0.003495167,0.007735391,0.0002865588,0.0006864214,0.001340259],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889696,0.0001731528,0.004636474,0.0008343221,0.001506762,0.002155167,0.0009413265,0.0002497119,0.0005335366],"genre_scores_gemma":[0.99415,0.00007924723,0.0003854145,0.000281178,0.00005778609,0.0009206561,0.0000975787,0.0001692179,0.003858894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1299742,"threshold_uncertainty_score":0.9996223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06565474642409157,"score_gpt":0.3139718251705544,"score_spread":0.2483170787464628,"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."}}