{"id":"W2997137838","doi":"10.1212/nxg.0000000000000389","title":"HSAN-VI","year":2020,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Skin and Cellular Biology Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"","keywords":"Gene isoform; Null allele; Dystonia; Allele; Pathogenesis; Mutation; Gene; Disease; Compound heterozygosity; Genetics; Biology; Medicine; Immunology; Pathology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007832574,0.0001370818,0.0001250749,0.00002083456,0.0000622266,0.000009888182,0.0003356062,0.0002836854,0.0001037824],"category_scores_gemma":[0.0001029601,0.0001348077,0.00007457838,0.00008935128,0.0001848903,6.541986e-7,0.000239846,0.0002104791,0.0001881811],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001205492,"about_ca_system_score_gemma":0.00005442956,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001064506,"about_ca_topic_score_gemma":0.000002774713,"domain_scores_codex":[0.9988391,0.0001353333,0.0001462785,0.0004481374,0.00009559961,0.0003355076],"domain_scores_gemma":[0.9994184,0.0000132027,0.00003400258,0.0003069544,0.00004983765,0.0001775588],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002582035,0.00003778302,0.0311583,0.000008600245,0.00004187339,0.00008789564,0.00003205939,0.00007954408,0.9496771,0.0000723257,0.01440432,0.004141981],"study_design_scores_gemma":[0.0008460584,0.002568411,0.007734334,7.121477e-7,0.0000171776,0.0002034478,0.0000124855,0.0005347913,0.3659384,0.00008425516,0.6217906,0.0002692976],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891351,0.001889043,0.0008286373,0.003727695,0.0001863104,0.0001396092,0.000008939623,0.00002564808,0.004059027],"genre_scores_gemma":[0.9877458,0.0006275615,0.0002623905,0.01041801,0.0005998407,0.0000114833,0.00006987317,0.00002804141,0.0002370061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6073864,"threshold_uncertainty_score":0.5497298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02216596806716004,"score_gpt":0.2681014538714609,"score_spread":0.2459354858043009,"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."}}