{"id":"W2148874084","doi":"10.1093/hmg/ddt178","title":"Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":194,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Institut National Du Cancer; Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Ligue Contre le Cancer; Institut des maladies génétiques Imagine","keywords":"Dyskeratosis congenita; Biology; Genome instability; Telomere; Genetics; Premature aging; DNA repair; Haploinsufficiency; DNA damage; Gene; DNA","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001677024,0.000469657,0.0006013299,0.0002461998,0.000375231,0.0001357037,0.0002575251,0.0001861451,0.0003293018],"category_scores_gemma":[0.00003119114,0.0004046404,0.0001017753,0.0003313685,0.0005875257,0.0001077445,0.0001496197,0.000354225,0.00004883738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008839584,"about_ca_system_score_gemma":0.0001073187,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002223508,"about_ca_topic_score_gemma":0.0001097619,"domain_scores_codex":[0.9972354,0.00008901309,0.0005246536,0.0008232939,0.0006360482,0.0006916407],"domain_scores_gemma":[0.9981512,0.00002213379,0.00009921667,0.001006283,0.0002684849,0.0004526876],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00002560544,0.0004958752,0.1630908,0.0003978415,0.0001350636,0.0007809343,0.0008137499,0.00003829359,0.8314227,0.0005098387,0.00006552298,0.002223767],"study_design_scores_gemma":[0.0008025336,0.001364457,0.9822094,0.00008764784,0.0001815708,0.0007663299,0.0002870597,0.0000202264,0.01276784,0.0004070466,0.0005446239,0.0005612129],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935543,0.003438718,0.0002610416,0.0001134307,0.0000403635,0.001065581,0.00001214569,0.000144431,0.001369997],"genre_scores_gemma":[0.9968806,0.0001393645,0.002095685,0.000409334,0.00004930473,0.00006655775,0.00004944964,0.00009149315,0.0002182407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8191187,"threshold_uncertainty_score":0.9998406,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01782608680398911,"score_gpt":0.2585458830115778,"score_spread":0.2407197962075887,"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."}}