{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002748742,0.0007720308,0.0003619489,0.001020822,0.0004587144,0.0004867785,0.000285036,0.0006629612,0.001887028],"category_scores_gemma":[0.0009243275,0.0001386389,0.0002361052,0.0004779586,0.0005625037,0.0004091464,0.0004967173,0.0005586148,0.0006228396],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001967825,"about_ca_system_score_gemma":0.0002784076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001101467,"about_ca_topic_score_gemma":0.001126584,"domain_scores_codex":[0.9997665,0.00004470515,0.00003958131,0.00006279008,0.00004062508,0.00004576391],"domain_scores_gemma":[0.9997635,0.00006213375,0.00005618014,0.00001709324,0.00004245077,0.0000586859],"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":[0.0007356063,0.0002766068,0.2997876,0.0002955273,0.00005738134,0.3566251,0.001121991,0.0007770973,0.2588521,0.002058594,0.00478675,0.07462559],"study_design_scores_gemma":[0.00004525575,0.0004318546,0.2030402,0.0001472899,0.0001291701,0.7373191,0.0005313612,0.001159784,0.04148676,0.001178394,0.01448788,0.00004289872],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9807597,0.002365486,0.004762187,0.0006686187,0.00007623244,0.00007881721,0.0002744848,0.000288566,0.01072579],"genre_scores_gemma":[0.9930118,0.001237854,0.003798575,0.0003549142,0.0000618604,0.00001368228,0.0002356937,0.00006737043,0.001218157],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001887028,"threshold_uncertainty_score":0.006312728,"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."}}