{"id":"W2802748162","doi":"10.1111/cge.13370","title":"Refining the phenotype associated with biallelic <i>DNAJC21</i> mutations","year":2018,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fundação para a Ciência e a Tecnologia","keywords":"Dyskeratosis congenita; Failure to thrive; Penetrance; Bone marrow failure; Diamond–Blackfan anemia; Phenotype; Medicine; Expressivity; Genetics; Bioinformatics; Biology; Pathology; Gene","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":[0.0001984585,0.0001160478,0.000119796,0.000009068142,0.0001855989,0.00002505026,0.0001810814,0.0001424278,0.00001993921],"category_scores_gemma":[0.000264107,0.00007452954,0.00007322653,0.0001104612,0.0003825664,0.00000111619,0.00007672407,0.000093268,0.000049525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003745872,"about_ca_system_score_gemma":0.00008678903,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007522544,"about_ca_topic_score_gemma":0.0003675742,"domain_scores_codex":[0.9990817,0.00009763405,0.0002442404,0.0002736062,0.000105379,0.0001974805],"domain_scores_gemma":[0.9992362,0.00006933323,0.0001047572,0.0003730249,0.0001454744,0.00007126722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006112206,0.002970554,0.7104071,0.00001186762,0.00262081,0.00002111397,0.0004212772,0.0002395082,0.01138683,0.0003437538,0.02832468,0.2426413],"study_design_scores_gemma":[0.01119482,0.0143133,0.5662173,0.00008731637,0.001151566,0.00001879317,0.0003898759,0.0007258945,0.02585489,0.001707686,0.3770064,0.00133212],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933074,0.0006450601,0.0003509592,0.0003705485,0.0002114439,0.0001019844,0.00001458779,0.00001658972,0.004981391],"genre_scores_gemma":[0.9959819,0.0001458493,0.0008610829,0.001437534,0.0003871751,0.00001301633,0.0001147633,0.00002366852,0.001035003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3486818,"threshold_uncertainty_score":0.3039226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03993458837266698,"score_gpt":0.3343035560951449,"score_spread":0.2943689677224779,"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."}}