{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005251631,0.00008276939,0.00005978561,0.00003017217,0.0001140869,0.00004659982,0.00006981479,0.00005698647,0.00006915098],"category_scores_gemma":[0.0002299676,0.00008248198,0.0000590469,0.00002681041,0.00001512581,0.000005464126,0.00002387557,0.00002188243,0.00008031657],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001645923,"about_ca_system_score_gemma":0.00006138541,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004164221,"about_ca_topic_score_gemma":0.000009415598,"domain_scores_codex":[0.9994706,0.0000161035,0.0001299974,0.0001905849,0.00005314618,0.0001395771],"domain_scores_gemma":[0.9996358,0.00003176285,0.00005857946,0.0001356457,0.00009176057,0.00004643431],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001004335,0.0002815576,0.05153252,0.0004593315,0.0001667023,0.00006135057,0.00102183,0.00120142,0.8725944,0.001823836,0.0626922,0.008064481],"study_design_scores_gemma":[0.00618885,0.00318625,0.7935132,0.00006378941,0.0005710348,0.0002776157,0.001563975,0.001112385,0.1250138,0.04367857,0.02227098,0.0025596],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982337,0.0002670296,0.0008130374,0.00003296086,0.00007101714,0.0004135282,0.00003764951,0.00001134104,0.0001197275],"genre_scores_gemma":[0.997431,0.00003054355,0.0003872864,0.000221922,0.0003111604,0.000209524,0.0009189657,0.00001666608,0.0004729414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7475805,"threshold_uncertainty_score":0.3363518,"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."}}