{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005177311,0.0001332374,0.0002731126,0.00004685341,0.00005013856,0.00002315925,0.0002899619,0.0001203537,0.00009364106],"category_scores_gemma":[0.0002521395,0.0001077663,0.0001283393,0.00008712491,0.001019352,0.000002111733,0.0001239347,0.0001499417,0.00001186549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004501617,"about_ca_system_score_gemma":0.0002645274,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006889828,"about_ca_topic_score_gemma":0.00001209397,"domain_scores_codex":[0.9983876,0.0001489432,0.0006061804,0.0002202474,0.0004260568,0.0002109876],"domain_scores_gemma":[0.998705,0.00003118755,0.0003040267,0.0002215831,0.0002356865,0.0005024998],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000457267,0.0004780193,0.1385204,0.00002171484,0.0005800987,0.000636195,0.000283638,0.00002983351,0.006551527,0.00001750165,0.01219268,0.8402312],"study_design_scores_gemma":[0.004744406,0.01996457,0.4602186,0.000214641,0.0004957741,0.01420651,0.001040836,0.001820613,0.003133672,0.0002827999,0.4928766,0.001001008],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908976,0.002259021,0.005451716,0.0008837866,0.0004019474,0.00005711515,0.000007794444,0.00000283744,0.00003815642],"genre_scores_gemma":[0.9896072,0.004667471,0.003095951,0.001260283,0.001278644,0.000001485301,0.000008425937,0.00002267626,0.00005790798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8392302,"threshold_uncertainty_score":0.4394582,"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."}}