{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000548017,0.0004258785,0.0003698282,0.001194737,0.0006901099,0.000713609,0.000559931,0.0004166362,0.001625756],"category_scores_gemma":[0.002486208,0.0002205872,0.0004002561,0.000856726,0.0004002753,0.0003010936,0.0005606792,0.0006083499,0.0002250337],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003135943,"about_ca_system_score_gemma":0.0004006082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004547847,"about_ca_topic_score_gemma":0.002725379,"domain_scores_codex":[0.9994801,0.0001244547,0.00003761563,0.000183172,0.0000936392,0.00008106611],"domain_scores_gemma":[0.9991356,0.0003040069,0.0002346022,0.0001088113,0.00007733019,0.0001397651],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000387751,0.00007839047,0.9827852,0.000009272218,0.0001042983,0.001428732,0.0005054172,0.0001968798,0.00958662,0.0001804046,0.0002648584,0.004472128],"study_design_scores_gemma":[0.00001988653,0.0001544742,0.9942122,0.00000654809,0.00005477752,0.003331208,0.0003758412,0.0004762552,0.0006734265,0.00007625717,0.0006118647,0.00000716951],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994327,0.00005992785,0.0001574183,0.00002971576,0.000001654688,0.00000431895,0.0002030541,0.000003079911,0.0001079409],"genre_scores_gemma":[0.9991288,0.00008449545,0.000219235,0.0000202279,0.000009174995,0.0000137153,0.000381331,0.00001110868,0.000132022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004547847,"threshold_uncertainty_score":0.00904274,"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."}}