{"id":"W2052453595","doi":"10.1002/humu.22451","title":"Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital; Western University; University of Alberta; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"University of Toronto; Université de Montréal; Ontario Genomics Institute; Genome British Columbia; University of Alberta; Canadian Institutes of Health Research; Institute of Genetics; Ontario Genomics; Genome Canada; Government of Canada; McGill University; University of Ottawa","keywords":"Exome sequencing; Ataxia; Biology; Exome; Genetics; Disease; Rare disease; Genetic testing; Human genetics; Bioinformatics; Gene; Phenotype; Medicine; Pathology; Neuroscience","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":[0.000725002,0.0002647561,0.0002681633,0.0008906718,0.0002769149,0.0004621289,0.0002673767,0.0002792282,0.0007850527],"category_scores_gemma":[0.002606346,0.000113597,0.0001039878,0.0005619025,0.0002876195,0.0002261295,0.000285244,0.0002370915,0.000196553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005007152,"about_ca_system_score_gemma":0.0007273895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009941138,"about_ca_topic_score_gemma":0.01922915,"domain_scores_codex":[0.9995325,0.0001240149,0.00003738279,0.00007601546,0.0001649927,0.00006510708],"domain_scores_gemma":[0.9987424,0.0007151193,0.0001970446,0.00005450811,0.0001878095,0.0001032258],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003633824,0.00003120189,0.9240683,0.00005612363,0.00003438833,0.005010569,0.0002306511,0.0004793065,0.02475732,0.0002642935,0.0008768172,0.0438275],"study_design_scores_gemma":[0.00002101059,0.0003124312,0.9317407,0.00006804756,0.00009762229,0.03497108,0.000441148,0.004345547,0.02062485,0.0002251478,0.00713219,0.00002014421],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989862,0.002833201,0.003711026,0.0002551124,0.00001380559,0.00003758281,0.00058826,0.00005774143,0.002641281],"genre_scores_gemma":[0.9938986,0.001197185,0.004068334,0.0001019892,0.00001124281,0.00001375849,0.0004382417,0.0000103527,0.0002602297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009941138,"threshold_uncertainty_score":0.01976651,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01224109901695141,"score_gpt":0.2589139083389975,"score_spread":0.2466728093220461,"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."}}