{"id":"W3035991642","doi":"10.24908/iqurcp.14036","title":"Marfan Syndrome: Using genetic maps to lead the way to new diagnostics and treatments","year":2020,"lang":"en","type":"article","venue":"Inquiry Queen s Undergraduate Research Conference Proceedings","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Marfan syndrome; Connective tissue; Disease; Penetrance; Scoliosis; Mutation; Genetics; Biology; Fibrillin; Bioinformatics; Extracellular matrix; Pathology; Medicine; Gene; Phenotype; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"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":[0.003436892,0.0004675263,0.0004731881,0.001449095,0.0003529216,0.001705942,0.000501273,0.001090311,0.00388131],"category_scores_gemma":[0.003887183,0.0001731229,0.000294739,0.0005459613,0.001832328,0.001847274,0.001194383,0.001543401,0.0009408743],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001004486,"about_ca_system_score_gemma":0.001303582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001472806,"about_ca_topic_score_gemma":0.001619142,"domain_scores_codex":[0.9991319,0.0004583369,0.00003427631,0.00007576343,0.0002362905,0.00006344305],"domain_scores_gemma":[0.9991301,0.0004377531,0.00007213683,0.0000777199,0.0001329468,0.0001493705],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0002584734,0.0001712023,0.007134044,0.0007926979,0.00008999563,0.001856426,0.0008209922,0.001385433,0.009672242,0.1067451,0.04501014,0.8260632],"study_design_scores_gemma":[0.0001205993,0.0005650606,0.009829086,0.00174706,0.0001053682,0.006353057,0.001485462,0.001803816,0.005454667,0.1215702,0.8508651,0.0001005277],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.04837182,0.5022613,0.08706331,0.2998759,0.007816846,0.0001753546,0.0002979152,0.0007809387,0.05335665],"genre_scores_gemma":[0.2021589,0.6038384,0.1327375,0.02303624,0.006846288,0.0001489464,0.0002996404,0.000175471,0.0307586],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00388131,"threshold_uncertainty_score":0.01817626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1243813395234755,"score_gpt":0.3809945918508842,"score_spread":0.2566132523274088,"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."}}