{"id":"W4416121867","doi":"10.21203/rs.3.rs-7842722/v1","title":"DDX3X syndrome: a multicenter genotype-phenotype study","year":2025,"lang":"","type":"preprint","venue":"Research Square","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Centre Hospitalier Universitaire de Sherbrooke; University of Calgary; McGill University","funders":"Heinrich-Heine-Universität Düsseldorf; Deutsche Forschungsgemeinschaft","keywords":"Phenotype; Penetrance; Cohort; Mutation; Genetic heterogeneity; Exome sequencing","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001677678,0.001780506,0.001701679,0.001598399,0.001977385,0.000968018,0.0007083252,0.001128125,0.005588245],"category_scores_gemma":[0.00271657,0.0006727733,0.00102002,0.001759659,0.0009272909,0.0006404253,0.001705236,0.0008673002,0.001515444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005058668,"about_ca_system_score_gemma":0.0006110674,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003020277,"about_ca_topic_score_gemma":0.001545721,"domain_scores_codex":[0.9978989,0.000730337,0.000173018,0.0007083666,0.0002902745,0.0001990647],"domain_scores_gemma":[0.9976698,0.0005449011,0.0004288139,0.0004000452,0.000254812,0.0007015664],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01125763,0.003329351,0.8688976,0.0001270279,0.001459598,0.02191699,0.003458354,0.0005613655,0.05793015,0.000785064,0.004004677,0.02627221],"study_design_scores_gemma":[0.002016259,0.004680099,0.9499654,0.00005451364,0.0008492689,0.03224682,0.001446331,0.0008423883,0.0033512,0.0004452096,0.004007089,0.00009545696],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971818,0.0001675778,0.0006659416,0.00008420808,0.0000121298,0.00006325827,0.001204389,0.0000211038,0.0005996233],"genre_scores_gemma":[0.9948684,0.000206225,0.001053349,0.0001385829,0.00006553002,0.0001403839,0.002465217,0.00007247345,0.0009898179],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005588245,"threshold_uncertainty_score":0.01869452,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03314990249248774,"score_gpt":0.3806291032012618,"score_spread":0.3474792007087741,"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."}}