{"id":"W2042144338","doi":"10.1093/brain/awu348","title":"Exome sequencing in undiagnosed inherited and sporadic ataxias","year":2014,"lang":"en","type":"article","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":139,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institute for Health and Care Research; Wellcome Trust","keywords":"Exome sequencing; Disease; Exome; Genetics; Genetic heterogeneity; Medicine; DNA sequencing; Genetic testing; Phenotype; Medical genetics; Genetic counseling; Bioinformatics; Gene; Biology; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007101775,0.0003317865,0.0003885957,0.001038474,0.0004087829,0.0004299687,0.0001947507,0.0005572769,0.0008532066],"category_scores_gemma":[0.002934978,0.0001337646,0.0001324476,0.0004274057,0.0003197171,0.0001893061,0.0005392843,0.0001782123,0.0001664554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002081336,"about_ca_system_score_gemma":0.0001984472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001154704,"about_ca_topic_score_gemma":0.002219623,"domain_scores_codex":[0.9995124,0.0001621689,0.00005808471,0.0001437887,0.00006935512,0.00005425926],"domain_scores_gemma":[0.9994729,0.0003025717,0.00006665001,0.00003946872,0.00005819729,0.00006033887],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001995895,0.0002328783,0.7244053,0.0001387642,0.000252978,0.04179299,0.003673874,0.0009827939,0.1728636,0.0007661353,0.0006936515,0.05220127],"study_design_scores_gemma":[0.00008394502,0.000539927,0.9223165,0.00007054926,0.0001619416,0.05002643,0.001072713,0.002005977,0.01929192,0.0008099878,0.003587835,0.00003230412],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998679,0.0002965824,0.0005377933,0.0000254239,0.000003205176,0.00001060466,0.0001085304,0.000004782626,0.0003340722],"genre_scores_gemma":[0.9981414,0.0002907871,0.0009503235,0.00005873553,0.000005906697,0.00001131281,0.000289747,0.000005489975,0.0002462318],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001154704,"threshold_uncertainty_score":0.003755808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03979474688964067,"score_gpt":0.2624912389479666,"score_spread":0.2226964920583259,"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."}}