{"id":"W3087332381","doi":"10.1111/cge.13841","title":"Biallelic variants in <scp> <i>GLE1</i> </scp> with survival beyond neonatal period","year":2020,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Digestive system and related health","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Period (music); Genetics; Biology; Computational biology","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":[0.0007094446,0.0004745129,0.0004809891,0.0004998425,0.00101609,0.0008347231,0.0005591444,0.008212532,0.008528333],"category_scores_gemma":[0.005594154,0.0002572111,0.0005004194,0.0006136462,0.001048299,0.0007989587,0.0004661555,0.005646038,0.005577875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001045681,"about_ca_system_score_gemma":0.0006983701,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004798351,"about_ca_topic_score_gemma":0.006831065,"domain_scores_codex":[0.99944,0.0001141594,0.00005434326,0.0001381764,0.0001388049,0.0001145616],"domain_scores_gemma":[0.9975429,0.001309086,0.0002405402,0.0001753954,0.0003426325,0.0003895289],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0005121698,0.00005431097,0.03443009,0.0001621368,0.0000577437,0.1038821,0.000320964,0.0003689052,0.003742406,0.006402724,0.7990732,0.05099339],"study_design_scores_gemma":[0.000346495,0.0002183067,0.04658863,0.0007755895,0.0001941974,0.4347437,0.0008019952,0.003182907,0.00286984,0.04193555,0.4681798,0.0001630134],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.02367043,0.007630582,0.001434023,0.9141954,0.01500976,0.00004335585,0.001642792,0.0002459745,0.03612756],"genre_scores_gemma":[0.3719926,0.01057824,0.002956655,0.4649622,0.0919316,0.0001345545,0.001566307,0.0003834292,0.05549436],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.008528333,"threshold_uncertainty_score":0.02853006,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03043640932176454,"score_gpt":0.3033389781612161,"score_spread":0.2729025688394516,"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."}}