{"id":"W3127370571","doi":"10.1111/cge.13935","title":"Whole genome sequencing reveals biallelic <scp> <i>PLA2G6</i> </scp> mutations in siblings with cerebellar atrophy and cap myopathy","year":2021,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; SickKids Foundation; University of Toronto; Ottawa Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Institute of Genetics; Genome British Columbia; Genome Alberta; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics Institute","keywords":"Genetics; Myopathy; Biology; Atrophy; Mutation; Missense mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005391211,0.0008336063,0.0006168105,0.0009458019,0.001976826,0.001122292,0.001012175,0.01236942,0.005171659],"category_scores_gemma":[0.004313684,0.0004821249,0.0006037784,0.0006025884,0.001377217,0.0008914708,0.0006266157,0.005879742,0.003050125],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002107668,"about_ca_system_score_gemma":0.0009503872,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00924357,"about_ca_topic_score_gemma":0.009607242,"domain_scores_codex":[0.9991715,0.0001439405,0.00009335603,0.000168785,0.0002476012,0.000174814],"domain_scores_gemma":[0.9979553,0.000968756,0.0001321517,0.0001112561,0.000347023,0.0004854495],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001732764,0.00006620081,0.01011009,0.00006543136,0.00003332979,0.8406435,0.0004464675,0.0002473386,0.00260649,0.001675011,0.1350705,0.008862311],"study_design_scores_gemma":[0.0001461854,0.0002170741,0.02644551,0.0002760526,0.0000824296,0.8938218,0.0007400328,0.002336081,0.002291635,0.006090131,0.06745893,0.00009406918],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.2405262,0.00500942,0.002981857,0.6321689,0.01517848,0.0002402214,0.001965882,0.0006658986,0.1012632],"genre_scores_gemma":[0.7802647,0.003596692,0.003027502,0.1592442,0.0157244,0.00009924649,0.0006879172,0.000286339,0.03706902],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01236942,"threshold_uncertainty_score":0.01837957,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08394456423170456,"score_gpt":0.3072412075341484,"score_spread":0.2232966433024438,"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."}}