{"id":"W2891549492","doi":"10.1002/ajmg.a.40482","title":"Warsaw breakage syndrome: Further clinical and genetic delineation","year":2018,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Centre for Phenogenomics; Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"National Institutes of Health","keywords":"Microcephaly; Biology; Phenotype; Genetics; Hearing loss; Allele; Sensorineural hearing loss; Hypoplasia; Gene; Medicine; Audiology; Anatomy","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":[0.0001423695,0.000861258,0.0003953872,0.001382094,0.0002488967,0.0003094017,0.0003303555,0.000512969,0.001641511],"category_scores_gemma":[0.0004821739,0.000193314,0.0002771129,0.0007909581,0.0007187688,0.0004364573,0.0008553866,0.0005095259,0.0003778084],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001829782,"about_ca_system_score_gemma":0.0003461196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009040168,"about_ca_topic_score_gemma":0.0009616934,"domain_scores_codex":[0.9998715,0.00001580413,0.00003208047,0.00003645755,0.00002198222,0.00002225969],"domain_scores_gemma":[0.9998062,0.00003775976,0.00007241483,0.00002369386,0.00001798478,0.0000418501],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001038413,0.0002617575,0.2465498,0.000670352,0.0001811223,0.3451809,0.002662478,0.0009010803,0.2446938,0.005939298,0.001940767,0.1499802],"study_design_scores_gemma":[0.0001084469,0.0002996215,0.3261266,0.00009294495,0.0001085939,0.650026,0.00035849,0.0008327039,0.007152472,0.00182578,0.0130292,0.00003913372],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908603,0.002940693,0.001989689,0.0003461785,0.00002271551,0.00005343159,0.0002887072,0.00004329875,0.003454923],"genre_scores_gemma":[0.9915452,0.003100219,0.003000759,0.0001975906,0.00006494109,0.00004925892,0.0007236016,0.00001326137,0.001305212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001641511,"threshold_uncertainty_score":0.005491376,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0112354091082471,"score_gpt":0.3101547930912463,"score_spread":0.2989193839829992,"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."}}