{"id":"W2171667994","doi":"10.1007/s10897-013-9615-1","title":"Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis","year":2013,"lang":"en","type":"article","venue":"Journal of Genetic Counseling","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Victoria","funders":"","keywords":"Genetic counseling; Allele; Predictive testing; Genetics; Context (archaeology); Spinocerebellar ataxia; Mendelian inheritance; Prenatal diagnosis; Trinucleotide repeat expansion; Biology; Medicine; Gene; Pregnancy; Fetus","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":[0.0003251199,0.0001171759,0.0002044145,0.0001221072,0.00005546546,0.00006659819,0.0003382985,0.00002774678,0.00007774203],"category_scores_gemma":[0.0005492793,0.00007987544,0.000072082,0.0001292432,0.0001201337,0.0001276636,0.00004869752,0.0001660284,0.00000524883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009081018,"about_ca_system_score_gemma":0.00006063945,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001179168,"about_ca_topic_score_gemma":0.00003183809,"domain_scores_codex":[0.9984568,0.0002508603,0.0005300429,0.0001504895,0.0004013443,0.0002104599],"domain_scores_gemma":[0.9987644,0.0005500789,0.000321811,0.0001401858,0.0001479553,0.00007559175],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002180458,0.001069042,0.2519032,0.000227907,0.00004913024,0.0002457879,0.03553886,0.00160351,0.6588141,0.0002067164,0.002927265,0.04719635],"study_design_scores_gemma":[0.002337521,0.0007859616,0.2911777,0.0002824067,0.00007148171,0.0003355798,0.00679519,0.002668757,0.6937848,0.0006120086,0.000865424,0.0002831216],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974179,0.001704226,0.0002092831,0.0002714818,0.0001601933,0.0001967768,0.00001300748,0.000002402284,0.0000246817],"genre_scores_gemma":[0.9968675,0.002096024,0.0001352153,0.0007809409,0.00008726642,0.00001565012,2.203672e-7,0.00001046615,0.000006706582],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04691323,"threshold_uncertainty_score":0.3257226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01466581406447424,"score_gpt":0.2471218268491904,"score_spread":0.2324560127847161,"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."}}