{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0003650739,0.0005449386,0.001032205,0.0002049688,0.0001792118,0.000235602,0.0005904234,0.0009422571,0.00002356761],"category_scores_gemma":[0.002675179,0.0004664558,0.0002992749,0.000753785,0.0006689011,0.00006724881,0.0003888722,0.002582807,0.00007181955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003509067,"about_ca_system_score_gemma":0.0003507885,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001095305,"about_ca_topic_score_gemma":0.000007692963,"domain_scores_codex":[0.9946727,0.0009203925,0.001219291,0.00172361,0.000610182,0.0008537809],"domain_scores_gemma":[0.9954823,0.002721418,0.0004653867,0.0008183381,0.0001338431,0.0003786965],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001768228,0.001773856,0.0234029,0.002658919,0.0002702669,0.05878108,0.001761331,0.006728489,0.5541391,0.0003769358,0.3404117,0.009518641],"study_design_scores_gemma":[0.001378607,0.0007345708,0.01104194,0.0001255332,0.0002865833,0.0001142374,0.00005989811,0.0002068706,0.0008043753,0.001785019,0.9830232,0.0004391668],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.9622833,0.004458962,0.0001082629,0.03028842,0.0007806683,0.0008086104,0.0005061912,0.00009625197,0.000669378],"genre_scores_gemma":[0.07650296,0.01218293,0.001850035,0.9023148,0.004237473,0.00008044334,0.0002456697,0.0001960441,0.002389692],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.8857803,"threshold_uncertainty_score":0.9997787,"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."}}