{"id":"W2809163343","doi":"10.1002/mgg3.388","title":"<i>ERCC6L2</i>‐associated inherited bone marrow failure syndrome","year":2018,"lang":"en","type":"review","venue":"Molecular Genetics & Genomic Medicine","topic":"Acute Myeloid Leukemia Research","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"C17 Council","keywords":"Medicine; Exome sequencing; Microcephaly; Pathology; Bone marrow; Bone marrow failure; Craniofacial; Dysmetria; Sensorineural hearing loss; Hearing loss; Ataxia; Phenotype; Pediatrics; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity","insufficient_payload"],"consensus_categories":["metaepi_narrow","insufficient_payload"],"category_scores_codex":[0.001605944,0.001610506,0.00589713,0.001264022,0.000160175,0.0000548762,0.001137186,0.001761474,0.001366805],"category_scores_gemma":[0.001008386,0.001318039,0.001006575,0.001875065,0.001017971,0.0000314055,0.0007437196,0.002234289,0.001582288],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002890053,"about_ca_system_score_gemma":0.002551138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001062959,"about_ca_topic_score_gemma":0.00002344298,"domain_scores_codex":[0.9916784,0.0007989015,0.002309606,0.001836927,0.001665447,0.001710723],"domain_scores_gemma":[0.9941742,0.0002359629,0.0009529602,0.002747779,0.0006455745,0.001243503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002827205,0.0009279694,0.00006150771,0.06011589,0.01287761,0.04989773,0.001037306,0.000005631811,0.02212943,0.0001897485,0.2038278,0.6486467],"study_design_scores_gemma":[0.003023198,0.00151626,0.00005153592,0.01813689,0.005740414,0.005972342,0.00004027519,0.00005613233,0.00004457209,0.00005739875,0.9643698,0.0009912086],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004075511,0.9885799,0.0003142479,0.001269716,0.0005681802,0.003801843,0.0001348591,0.0002396492,0.001016106],"genre_scores_gemma":[0.0004915275,0.9870527,0.001994951,0.00147393,0.0009997516,0.000261556,0.002946684,0.0006969059,0.004082025],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.760542,"threshold_uncertainty_score":0.9996642,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03620704011889411,"score_gpt":0.327428310069406,"score_spread":0.2912212699505119,"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."}}