{"id":"W4405699836","doi":"10.1002/ajmg.a.63974","title":"Identification of a Founder <scp><i>GLDN</i></scp> Variant Associated With “Lethal” Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Montreal Neurological Institute and Hospital; Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Eastern Ontario; University of Victoria; McGill University; Université de Montréal; McGill University Health Centre","funders":"Genome Alberta; Genome British Columbia; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Génome Québec; BC Children's Hospital","keywords":"Arthrogryposis; Population; Medicine; Pediatrics; Cohort; Asymptomatic; Placental abruption; Pregnancy; Fetus; Biology; Genetics; Pathology; Surgery; Environmental health","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001520562,0.0003463365,0.0001964264,0.0008085122,0.001436842,0.0005105282,0.0005708298,0.0003335375,0.00175134],"category_scores_gemma":[0.0008325359,0.0001372157,0.0001962193,0.0005872499,0.0005512972,0.0001192265,0.0004279016,0.0003003196,0.0001114521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009714668,"about_ca_system_score_gemma":0.001093996,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3838381,"about_ca_topic_score_gemma":0.4594328,"domain_scores_codex":[0.9997903,0.00001632393,0.00001881885,0.00006360279,0.00004756865,0.00006345961],"domain_scores_gemma":[0.9997023,0.00005369935,0.00009212893,0.00001574823,0.00006313032,0.00007298731],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001135901,0.00003796384,0.9337918,0.00003554299,0.00004040852,0.025853,0.004271862,0.0001849438,0.02711631,0.0002775057,0.0002936357,0.0079834],"study_design_scores_gemma":[0.000008442243,0.00009232323,0.9608892,0.00003730071,0.00006361309,0.03038406,0.004431149,0.0006294915,0.002065621,0.0001142099,0.001256382,0.0000282871],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988716,0.00006193198,0.0001940622,0.00005575576,0.000004546785,0.00001120662,0.00009336905,0.000005105569,0.0007024441],"genre_scores_gemma":[0.99944,0.00004455765,0.0002052091,0.00002649644,0.000002135732,0.00000256759,0.0000695659,0.000003633657,0.0002058702],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6161619,"threshold_uncertainty_score":0.7632078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02231777381365158,"score_gpt":0.3301977172132954,"score_spread":0.3078799433996438,"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."}}