{"id":"W3091867553","doi":"10.1182/bloodadvances.2020001721","title":"Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations","year":2020,"lang":"en","type":"article","venue":"Blood Advances","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"National Center for Advancing Translational Sciences; National Institute of Mental Health; National Cancer Institute; National Heart, Lung, and Blood Institute","keywords":"Proband; Telomere; Penetrance; Hematology; Internal medicine; Diamond–Blackfan anemia; Biology; Medicine; Dyskeratosis congenita; Immunology; Phenotype; Genetics; Mutation; 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":[0.00003192824,0.0001639117,0.0003046477,0.00005814734,0.00006549809,0.000008957471,0.00007180691,0.00005839092,0.00003351241],"category_scores_gemma":[0.0001508002,0.00010742,0.00001624081,0.00025514,0.0002719307,0.0001827764,0.00004694222,0.0001366971,0.000003310283],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002979231,"about_ca_system_score_gemma":0.00004401336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005432003,"about_ca_topic_score_gemma":0.0001823053,"domain_scores_codex":[0.9990116,0.00004029094,0.0002021087,0.0004211706,0.0001023444,0.000222536],"domain_scores_gemma":[0.9995151,0.0001396554,0.00006235629,0.0001147336,0.000034704,0.0001334978],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001020886,0.0001999125,0.9804364,0.0010795,0.00002162184,0.000146961,0.001030805,0.000004011336,0.0009365571,0.0002513513,0.000008815962,0.01486315],"study_design_scores_gemma":[0.00529557,0.002148068,0.9810526,0.0006946719,0.0001771479,0.0005353655,0.003921201,0.0004794833,0.001682725,0.0004876966,0.00305422,0.0004712954],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9753155,0.02212311,0.00005007569,0.00154959,0.00002853411,0.000459384,0.00002272385,0.00006379349,0.0003873194],"genre_scores_gemma":[0.988916,0.008694178,0.001793851,0.0003653989,0.00006515894,0.00004982551,0.00001345987,0.00001226179,0.00008988204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01439186,"threshold_uncertainty_score":0.4380461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01285444746842407,"score_gpt":0.2666836753495976,"score_spread":0.2538292278811735,"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."}}