{"id":"W4205842243","doi":"10.1182/blood.2021010791","title":"Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects","year":2022,"lang":"en","type":"article","venue":"Blood","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Agence Nationale de la Recherche","keywords":"Dyskeratosis congenita; Biology; Bone marrow failure; Telomere; Microcephaly; Progeria; Genetics; Missense mutation; Premature aging; Cancer research; Immunology; Phenotype; Gene; Stem cell; Haematopoiesis","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":[0.00007835835,0.0007172191,0.0002734718,0.000456337,0.0002138576,0.0002108272,0.0001828812,0.0003612507,0.002070939],"category_scores_gemma":[0.0001866549,0.0001166285,0.0001829366,0.0002366535,0.0003314205,0.00009397117,0.0003641567,0.0002420057,0.0004751742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001570154,"about_ca_system_score_gemma":0.0001569872,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005301216,"about_ca_topic_score_gemma":0.0005584321,"domain_scores_codex":[0.9998535,0.0000162938,0.00001584583,0.00006098077,0.00003120045,0.00002217953],"domain_scores_gemma":[0.9998965,0.00002051841,0.00003971578,0.000007692716,0.00000640153,0.00002909523],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006048035,0.00007954431,0.03190915,0.0001641932,0.000071491,0.03129381,0.0001816466,0.0001290903,0.9206841,0.0003564878,0.0006532086,0.01387247],"study_design_scores_gemma":[0.0003265923,0.001080527,0.2758843,0.0001027557,0.0002809474,0.3042833,0.0004010219,0.001742025,0.392386,0.0007116472,0.0227388,0.00006202307],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956027,0.0009742006,0.001405259,0.00007695409,0.00001803022,0.00002555295,0.0005228989,0.00009202454,0.001282345],"genre_scores_gemma":[0.9975637,0.0004885857,0.0005489028,0.00006990799,0.00001379853,0.00001237735,0.0004079943,0.00001541947,0.0008793285],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002070939,"threshold_uncertainty_score":0.006927967,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01546002272497209,"score_gpt":0.2346254712322759,"score_spread":0.2191654485073038,"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."}}