{"id":"W4205299466","doi":"10.1016/j.gim.2021.12.015","title":"Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; Universiteit Antwerpen; Vlaamse regering; Fondation Leducq; Marfan Foundation; Fonds Wetenschappelijk Onderzoek; National Heart, Lung, and Blood Institute; Heart and Stroke Foundation of Canada","keywords":"Marfan syndrome; Ectopia lentis; Phenotype; Medicine; Fibrillin; Cohort; Haploinsufficiency; Genotype; Exon; Genetics; Internal medicine; Gene; Bioinformatics; Biology","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":[0.001006717,0.00007717283,0.0001552847,0.0001875839,0.00002101908,0.000001595478,0.00008553077,0.00004526237,0.00001063344],"category_scores_gemma":[0.0003648781,0.00007080676,0.000009825222,0.0004431015,0.00005340271,0.00000156363,0.0001597374,0.00006603551,4.624496e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006547507,"about_ca_system_score_gemma":0.00009701002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001594977,"about_ca_topic_score_gemma":0.0001511453,"domain_scores_codex":[0.9985811,0.0006124497,0.000271439,0.0002463364,0.0001707783,0.000117879],"domain_scores_gemma":[0.9995855,0.00004900445,0.00007270687,0.0002222864,0.00003900337,0.00003150749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001253557,0.00003857799,0.549755,0.00001392935,0.000003748463,0.000001211625,0.0008233803,0.0001994169,0.4483148,0.00001102954,1.026858e-7,0.0007135059],"study_design_scores_gemma":[0.0009785445,0.0006350018,0.9872798,0.000009426373,0.00001240115,0.000004007168,0.0001705794,0.000967232,0.009493588,0.0003556247,0.00003929319,0.00005452907],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978577,0.0008584916,0.0002553249,0.0002382415,0.00002194017,0.0007396105,0.00002031384,8.920859e-7,0.000007476923],"genre_scores_gemma":[0.9994664,0.0002243805,0.0001153013,0.00003205015,0.000007683702,0.0001073926,0.00003106278,0.000008183244,0.000007518703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4388212,"threshold_uncertainty_score":0.2887416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00698428885204048,"score_gpt":0.2565933511426596,"score_spread":0.2496090622906192,"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."}}