{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002837786,0.0002229754,0.0002371382,0.001099551,0.0003325221,0.0003790957,0.0001322937,0.0003403294,0.001741073],"category_scores_gemma":[0.001872364,0.000158438,0.000154545,0.0005898291,0.0002251006,0.0003400868,0.0003182786,0.0002364821,0.000249773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001621962,"about_ca_system_score_gemma":0.0001177027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001978763,"about_ca_topic_score_gemma":0.002007543,"domain_scores_codex":[0.999752,0.00003631495,0.00004362093,0.00008329978,0.00004433369,0.00004039589],"domain_scores_gemma":[0.9994416,0.0001232458,0.0002246704,0.00003189068,0.00006197186,0.0001166515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002508729,0.000007941243,0.9984773,0.000002980589,0.000004168458,0.000234723,0.00005376336,0.00001139136,0.0001846868,0.000009918596,0.00006751577,0.0009205985],"study_design_scores_gemma":[0.000002835066,0.00005068748,0.9970823,0.000005472818,0.000006028189,0.002477586,0.0001430128,0.00006096633,0.00005332697,0.00001889669,0.00009709743,0.0000018322],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988871,0.0003143846,0.00006241183,0.00003103637,0.000002696241,0.000006001013,0.0002413334,0.000005962735,0.0004490936],"genre_scores_gemma":[0.9993389,0.0001500003,0.00008919755,0.0000309892,0.000007891782,0.000007601622,0.0002829925,0.000001562791,0.0000908787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001978763,"threshold_uncertainty_score":0.005824506,"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."}}