{"id":"W7097100744","doi":"","title":"OFFICIAL JOURNAL www.hgvs.org Exome Sequencing as a Diagnostic Tool for","year":2016,"lang":"en","type":"article","venue":"","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Exome sequencing; Ataxia; Genetic diagnosis; Exome; Disease; Rare disease; DNA sequencing; Genetic testing; Clinical phenotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0008024724,0.0002943212,0.0002249567,0.001511581,0.0005424463,0.001228162,0.0004466312,0.0004313876,0.004804526],"category_scores_gemma":[0.001826557,0.0001440259,0.0001384565,0.0009035902,0.0004443118,0.0001859227,0.000534868,0.0003264464,0.001110504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0013945,"about_ca_system_score_gemma":0.002310049,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.06167235,"about_ca_topic_score_gemma":0.1334437,"domain_scores_codex":[0.9995674,0.00006572072,0.00003648071,0.00007883178,0.0001651374,0.00008638234],"domain_scores_gemma":[0.9990128,0.000246155,0.00008874715,0.0001168546,0.0003426743,0.0001927962],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008953694,0.00008191972,0.7958658,0.0002108544,0.0001622947,0.003947902,0.00029807,0.0005229756,0.02616484,0.001135172,0.04501713,0.1256977],"study_design_scores_gemma":[0.00009255421,0.0001380081,0.839444,0.0002171185,0.000206546,0.02242344,0.0005317103,0.003264,0.02352027,0.001066458,0.1090609,0.0000349969],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9292642,0.006672191,0.005958479,0.002230413,0.0003972837,0.0002061552,0.02166454,0.0006000023,0.03300679],"genre_scores_gemma":[0.9691437,0.002166045,0.007393736,0.0007542592,0.0001136771,0.00003808941,0.01419441,0.0001696723,0.006026302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06167235,"threshold_uncertainty_score":0.1226268,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06508623535039527,"score_gpt":0.305358841905406,"score_spread":0.2402726065550107,"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."}}