{"id":"W4383674572","doi":"10.1111/ene.15969","title":"<scp>Genotype–phenotype</scp> relations for episodic ataxia genes: <scp>MDSGene</scp> systematic review","year":2023,"lang":"en","type":"review","venue":"European Journal of Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Toronto Western Hospital; University of Toronto","funders":"","keywords":"Phenotype; Genetics; Genotype; Gene; Ataxia; Medicine; Exome; Biology; Exome sequencing; Neuroscience","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003717542,0.0009292401,0.004593602,0.01229837,0.0004767485,0.001725878,0.00145558,0.001377594,0.0187577],"category_scores_gemma":[0.02455834,0.0004408863,0.003345784,0.01670293,0.0005698588,0.001494669,0.001772315,0.0007599131,0.001551147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001981065,"about_ca_system_score_gemma":0.009375914,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007651429,"about_ca_topic_score_gemma":0.0214284,"domain_scores_codex":[0.9963279,0.0008422264,0.001502061,0.0004096409,0.0007533091,0.000164704],"domain_scores_gemma":[0.9727244,0.01893087,0.004314429,0.0005588838,0.003045111,0.0004261906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","study_design_scores_codex":[0.000154279,0.000008413019,0.001915458,0.9253895,0.003919186,0.0003182631,0.0002415836,0.0001220902,0.0004944906,0.0006485021,0.03150152,0.03528672],"study_design_scores_gemma":[0.0002369035,0.0001019895,0.0139641,0.8551436,0.01493274,0.001011582,0.0003049609,0.00009779278,0.0002532624,0.001088017,0.1128183,0.00004677111],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003900357,0.9322026,0.000659087,0.004171892,0.0007252758,0.00119473,0.05330823,0.0001471764,0.003690609],"genre_scores_gemma":[0.03308802,0.9297442,0.002615465,0.007529404,0.0007554291,0.003108932,0.02131669,0.0000932014,0.001748625],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.0187577,"threshold_uncertainty_score":0.06275076,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09295273991139066,"score_gpt":0.3241343602705151,"score_spread":0.2311816203591244,"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."}}