{"id":"W2808041165","doi":"10.1038/s41436-018-0007-7","title":"Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":88,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Ataxia; Exome sequencing; Exome; Medicine; Etiology; Neurology; Phenotype; Genetics; Human genetics; Bioinformatics; Pathology; Biology; Gene; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.0002339725,0.0001478552,0.0004354648,0.000370506,0.00002308409,0.000002177296,0.0004128594,0.0000538487,0.0004413073],"category_scores_gemma":[0.001480934,0.00009023617,0.00005678857,0.00189124,0.001326558,0.00003265751,0.0000918492,0.0001272734,0.000002003855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001090675,"about_ca_system_score_gemma":0.00003029651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002415337,"about_ca_topic_score_gemma":0.0004616709,"domain_scores_codex":[0.9978698,0.0002991948,0.0006546194,0.0003373455,0.0006185208,0.0002204588],"domain_scores_gemma":[0.998579,0.0004668878,0.0002781201,0.0005032412,0.0001031804,0.00006962976],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000403301,0.0002140241,0.9866081,0.0000486342,0.00004093434,0.000008075661,0.0007053089,0.002686176,0.00898432,0.00001082338,0.00006091951,0.0002293269],"study_design_scores_gemma":[0.001392901,0.0005720569,0.9896913,0.00004723197,0.0002159801,6.98935e-8,0.00004786499,0.002272326,0.005056332,0.0006026045,0.0000197547,0.00008163856],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985452,0.0005630325,0.0000926427,0.0002093557,0.0000880603,0.0003509945,0.00005297762,0.000006803687,0.00009095651],"genre_scores_gemma":[0.9993695,0.0002351226,0.00007435518,0.0002596815,0.00001433384,0.000009299018,0.000007698405,0.00001259004,0.00001742006],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003927988,"threshold_uncertainty_score":0.4887759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01584809939491827,"score_gpt":0.2512102231868165,"score_spread":0.2353621237918982,"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."}}