{"id":"W3135479022","doi":"10.1101/2021.02.27.430069","title":"A new murine <i>Rpl5</i> ( <i>uL18</i> ) mutation provides a unique model of variably penetrant Diamond Blackfan Anemia","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Université de Montréal","funders":"Western Michigan University","keywords":"Haploinsufficiency; Diamond–Blackfan anemia; Penetrance; Biology; Germline mutation; Germline; Mutation; Genetics; Mutant; Exome sequencing; Germline mosaicism; Phenotype; Cancer research; Gene; Ribosome","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":[0.000237063,0.0007821394,0.0002885261,0.001049772,0.000348641,0.0002875482,0.0005711793,0.0008415258,0.002702581],"category_scores_gemma":[0.0001284473,0.0003091157,0.0003371059,0.0001694011,0.0005444844,0.0002155927,0.0004342745,0.0007497472,0.0005346026],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003519048,"about_ca_system_score_gemma":0.0001645295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003746643,"about_ca_topic_score_gemma":0.0006846482,"domain_scores_codex":[0.9997774,0.00003538754,0.00003466994,0.00006817362,0.00004678408,0.0000375053],"domain_scores_gemma":[0.9996769,0.00005173317,0.0001297621,0.0000268603,0.00001403146,0.0001006064],"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":[0.0001693699,0.00007848979,0.0004559837,0.00003169064,0.000009345258,0.0006195387,0.00003175699,0.0001006934,0.9967089,0.000559722,0.0001147021,0.001119916],"study_design_scores_gemma":[0.00021648,0.001699235,0.01568179,0.00007471608,0.00008254652,0.01280257,0.0001259642,0.002814214,0.9536415,0.000597855,0.01221989,0.00004338287],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901955,0.0003807455,0.006123715,0.000210438,0.00003949203,0.00006884598,0.001261859,0.0002634295,0.001455998],"genre_scores_gemma":[0.9854544,0.0003584881,0.008507329,0.0001188787,0.00002076083,0.0001241551,0.001006932,0.000146152,0.004262827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002702581,"threshold_uncertainty_score":0.009041071,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01063157077767801,"score_gpt":0.2163491382624315,"score_spread":0.2057175674847535,"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."}}