{"id":"W4367303489","doi":"10.1212/wnl.0000000000203209","title":"Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort (P13-9.003)","year":2023,"lang":"en","type":"article","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McMaster University; Queen's University; McGill University Health Centre; Holland Bloorview Kids Rehabilitation Hospital; SickKids Foundation; University of Toronto; Hospital for Sick Children; University of Calgary; Children's Hospital of Eastern Ontario; McGill University","funders":"","keywords":"Concordance; Copy-number variation; Genetics; Cohort; Cerebral palsy; Genetic architecture; Phenotype; Exome sequencing; Biology; Single-nucleotide polymorphism; Indel; Medicine; Bioinformatics; Gene; Genome; Pathology; Psychiatry; Genotype","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0005505211,0.0005930307,0.0003826018,0.001289745,0.002136301,0.0009400178,0.0006779262,0.0005854375,0.004088256],"category_scores_gemma":[0.001181792,0.0002302427,0.0005790391,0.003040492,0.0003798253,0.0001485167,0.0006212814,0.0009856335,0.0005456489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004313926,"about_ca_system_score_gemma":0.01128312,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.925728,"about_ca_topic_score_gemma":0.9620988,"domain_scores_codex":[0.9994938,0.0000268142,0.00001791908,0.0001244758,0.0001501281,0.0001868283],"domain_scores_gemma":[0.9995435,0.00004212584,0.00005104885,0.00004495153,0.0001941055,0.0001242587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001377773,0.0002517422,0.7832658,0.0002416331,0.001171586,0.004356998,0.002339638,0.003434067,0.0597512,0.004102256,0.05757181,0.08213545],"study_design_scores_gemma":[0.00008296164,0.0000614681,0.9666899,0.00008690103,0.0002523935,0.001314925,0.0005895277,0.0009464566,0.001978081,0.0005145625,0.02745501,0.00002787121],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9411986,0.001620748,0.003226472,0.00158368,0.0001400206,0.0001689546,0.04006246,0.0001465033,0.01185247],"genre_scores_gemma":[0.970063,0.001386365,0.004268956,0.0008470157,0.00003638738,0.00009031362,0.01427734,0.0001519851,0.008878609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07427204,"threshold_uncertainty_score":0.1494188,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007933364346089879,"score_gpt":0.2174163894182937,"score_spread":0.2094830250722038,"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."}}