{"id":"W2538290242","doi":"10.1186/s12864-016-3093-4","title":"Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency","year":2016,"lang":"en","type":"article","venue":"BMC Genomics","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Center for Research Resources; National Cancer Institute; National Institute on Aging; National Institutes of Health","keywords":"Telomere; Telomerase; Biology; Genetics; Gene silencing; Anticipation (artificial intelligence); Loss function; Gene; Phenotype","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":[0.00013955,0.0007372129,0.0003214782,0.001118251,0.0005377511,0.0003537588,0.000230957,0.0006698278,0.001737437],"category_scores_gemma":[0.0005502323,0.0002094401,0.0002239867,0.0005414875,0.0003173563,0.0001948579,0.000328454,0.0003025176,0.0002424403],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000197546,"about_ca_system_score_gemma":0.000190448,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008903137,"about_ca_topic_score_gemma":0.001143106,"domain_scores_codex":[0.9999055,0.00001127298,0.00001476538,0.00003185704,0.00002088037,0.00001576625],"domain_scores_gemma":[0.9997961,0.00005296948,0.00007144101,0.00001104713,0.00001977525,0.0000487335],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002229734,0.00017705,0.6184344,0.0001241317,0.000156732,0.1144969,0.001357865,0.0004312373,0.2445288,0.0003712332,0.0005433802,0.01714858],"study_design_scores_gemma":[0.00008746951,0.0008301584,0.7572023,0.00004091755,0.0002285598,0.2200765,0.0007324766,0.001178116,0.01773723,0.000326864,0.001528327,0.00003096322],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993592,0.00013782,0.0001292851,0.0000261837,0.000002776182,0.000005523226,0.00006105726,0.00001193899,0.0002662486],"genre_scores_gemma":[0.9993876,0.0001129898,0.000217434,0.0000205385,0.000006065422,0.00000494208,0.0001033835,0.000003944614,0.0001430802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001737437,"threshold_uncertainty_score":0.005812347,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0123645429354404,"score_gpt":0.2128023498161333,"score_spread":0.2004378068806929,"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."}}